{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T11:53:36Z","timestamp":1791374016061,"version":"4.3.1"},"reference-count":18,"publisher":"Wiley","license":[{"start":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:00:00Z","timestamp":1791331200000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"},{"start":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T00:00:00Z","timestamp":1791331200000},"content-version":"tdm","delay-in-days":0,"URL":"http:\/\/doi.wiley.com\/10.1002\/tdm_license_1.1"}],"content-domain":{"domain":["onlinelibrary.wiley.com"],"crossmark-restriction":true},"short-container-title":["Pediatric Blood &amp; Cancer"],"abstract":"<jats:title>ABSTRACT<\/jats:title>\n                  <jats:p>\n                    Neurofibromatosis type 1 (NF1) is an autosomal dominant disorder caused by mutations in the\n                    <jats:italic>NF1<\/jats:italic>\n                    tumor suppressor gene, encoding neurofibromin. Pathogenic variants include point mutations, exon deletions, and splicing alterations, leading to diverse clinical manifestations, including central nervous system tumors. We analyzed cDNA from 32 pediatric and young adult patients, unaffected parents, and controls and observed the constant skipping of exon 38 in\n                    <jats:italic>NF1<\/jats:italic>\n                    gene. This event, previously considered pathogenic, was detected in both affected and unaffected individuals, suggesting it is a normal alternative transcript rather than a disease\u2010causing variant.\n                  <\/jats:p>","DOI":"10.1002\/1545-5017.70745","type":"journal-article","created":{"date-parts":[[2026,10,7]],"date-time":"2026-10-07T11:18:26Z","timestamp":1791371906000},"update-policy":"https:\/\/doi.org\/10.1002\/crossmark_policy","source":"Crossref","is-referenced-by-count":0,"title":["Skipping of Exon 38 in Neurofibromatosis Type 1 Gene Is Not a Pathogenic Variant"],"prefix":"10.1002","author":[{"ORCID":"https:\/\/orcid.org\/0000-0003-3698-9319","authenticated-orcid":false,"given":"Marzia","family":"Ognibene","sequence":"first","affiliation":[{"name":"UOC Genetica Medica IRCCS Istituto Giannina Gaslini  Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Maria Cristina","family":"Diana","sequence":"additional","affiliation":[{"name":"UOC Neurologia Pediatrica e Malattie Muscolari IRCCS Istituto Giannina Gaslini  Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marco","family":"Di Duca","sequence":"additional","affiliation":[{"name":"UOC Genetica Medica IRCCS Istituto Giannina Gaslini  Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-3097-0388","authenticated-orcid":false,"given":"Valeria","family":"Capra","sequence":"additional","affiliation":[{"name":"UOC Genomica e Genetica Clinica IRCCS Istituto Giannina Gaslini  Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-9744-5222","authenticated-orcid":false,"given":"Federico","family":"Zara","sequence":"additional","affiliation":[{"name":"UOC Genetica Medica IRCCS Istituto Giannina Gaslini  Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-8498-3750","authenticated-orcid":false,"given":"Patrizia","family":"De Marco","sequence":"additional","affiliation":[{"name":"UOC Genetica Medica IRCCS Istituto Giannina Gaslini  Genova Italy"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2026,10,7]]},"reference":[{"key":"e_1_2_9_2_1","doi-asserted-by":"publisher","DOI":"10.1097\/GIM.0b013e3181bf15e3"},{"key":"e_1_2_9_3_1","doi-asserted-by":"publisher","DOI":"10.1186\/s12881\u2010018\u20100615\u20108"},{"key":"e_1_2_9_4_1","doi-asserted-by":"publisher","DOI":"10.3390\/cells9112365"},{"key":"e_1_2_9_5_1","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.2535319123"},{"key":"e_1_2_9_6_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399\u20100004.2006.00639.x"},{"key":"e_1_2_9_7_1","doi-asserted-by":"publisher","DOI":"10.1038\/nrdp.2017.4"},{"key":"e_1_2_9_8_1","doi-asserted-by":"publisher","DOI":"10.24953\/turkjpediatr.2025.6461"},{"key":"e_1_2_9_9_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41436\u2010021\u201001170\u20105"},{"key":"e_1_2_9_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/mgg3.1631"},{"key":"e_1_2_9_11_1","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2015.6"},{"key":"e_1_2_9_12_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41525\u2010021\u201000258\u2010w"},{"key":"e_1_2_9_13_1","doi-asserted-by":"publisher","DOI":"10.3390\/cancers13081879"},{"key":"e_1_2_9_14_1","doi-asserted-by":"publisher","DOI":"10.3390\/ijms26146848"},{"key":"e_1_2_9_15_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41388\u2010021\u201002156\u2010y"},{"key":"e_1_2_9_16_1","doi-asserted-by":"publisher","DOI":"10.1038\/s41588\u2010025\u201002097\u20102"},{"key":"e_1_2_9_17_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.ejhg.5200434"},{"key":"e_1_2_9_18_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.38.7.481"},{"key":"e_1_2_9_19_1","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050837"}],"container-title":["Pediatric Blood &amp; 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