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Conference Paper: Phenotype-driven variant prioritization and re-analysis enhances genetic diagnosis of neuromuscular disorders

TitlePhenotype-driven variant prioritization and re-analysis enhances genetic diagnosis of neuromuscular disorders
Authors
She, CHLei, YYang, WanlingChan, Sophelia HS
Issue Date15-Sep-2024
Persistent Identifierhttp://hdl.handle.net/10722/362692

 

DC FieldValueLanguage
dc.contributor.authorShe, CH-
dc.contributor.authorLei, Y-
dc.contributor.authorYang, Wanling-
dc.contributor.authorChan, Sophelia HS-
dc.date.accessioned2025-09-26T00:37:00Z-
dc.date.available2025-09-26T00:37:00Z-
dc.date.issued2024-09-15-
dc.identifier.urihttp://hdl.handle.net/10722/362692-
dc.languageeng-
dc.relation.ispartofJoint Conference of the 22nd Annual Meeting of Asian Oceanian Myology Center and the 10th Annual Meeting of Japan Muscle Society (AOMC-JMS 2024) (12/09/2024-15/09/2024, Nara)-
dc.titlePhenotype-driven variant prioritization and re-analysis enhances genetic diagnosis of neuromuscular disorders-
dc.typeConference_Paper-

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