A recurrent de novo HSPD1 variant is associated with hypomyelinating leukodystrophy

Standardization of the use of next-generation sequencing for the diagnosis of rare neurological disorders has made it possible to detect potential disease-causing genetic variations, including de novo variants. However, the lack of a clear pathogenic relevance of gene variants poses a critical limit...

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Bibliographic Details
Published in:Cold Spring Harb Mol Case Stud
Main Authors: Cömert, Cagla, Brick, Lauren, Ang, Debbie, Palmfeldt, Johan, Meaney, Brandon F., Kozenko, Mariya, Georgopoulos, Costa, Fernandez-Guerra, Paula, Bross, Peter
Format: Artigo
Language:Inglês
Published: Cold Spring Harbor Laboratory Press 2020
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Research Reports
Online Access:https://ncbi.nlm.nih.gov/pmc/articles/PMC7304351/
https://ncbi.nlm.nih.gov/pubmed/32532876
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1101/mcs.a004879
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