Shruthi Mohan , Irene DeBiase , Tatiana Yuzyuk , Alexa Dickson , Tiziano Pramparo , Stephanie Francis , Pepper St. Clair , Rachel Logan , Randy Cockerell , Raquel Fernandez , Ashley Ratzsch , Emily Kyle , Meredith Weaver , Sharon Suchy , Ann Moser , Rong Mao , Nancy Braverman
{"title":"P004: Variant curation guideline specifications for ABCD1 from the ClinGen Peroxisomal Variant Curation Expert Panel*","authors":"Shruthi Mohan , Irene DeBiase , Tatiana Yuzyuk , Alexa Dickson , Tiziano Pramparo , Stephanie Francis , Pepper St. Clair , Rachel Logan , Randy Cockerell , Raquel Fernandez , Ashley Ratzsch , Emily Kyle , Meredith Weaver , Sharon Suchy , Ann Moser , Rong Mao , Nancy Braverman","doi":"10.1016/j.gimo.2025.102848","DOIUrl":null,"url":null,"abstract":"","PeriodicalId":100576,"journal":{"name":"Genetics in Medicine Open","volume":"3 ","pages":"Article 102848"},"PeriodicalIF":0.0000,"publicationDate":"2025-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Genetics in Medicine Open","FirstCategoryId":"1085","ListUrlMain":"https://www.sciencedirect.com/science/article/pii/S2949774425008878","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"","JCRName":"","Score":null,"Total":0}
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