Evidence of Two Novel LAMA2 Variants in a Patient With Muscular Dystrophy: Facing the Challenges of a Certain Diagnosis

BACKGROUND: Benefits and challenges resulting from advances in genetic diagnostics are two sides of the same coin. Facilitation of a correct and timely diagnosis is paralleled by challenges in interpretation of variants of unknown significance (VUS). Focusing on an individual VUS-re-classification p...

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Detalles Bibliográficos
Autores principales: Meyer, Stefanie, Kaulfuß, Silke, Zechel, Sabrina, Kummer, Karsten, Seif Amir Hosseini, Ali, Ernst, Marielle Sophie, Schmidt, Jens, Pauli, Silke, Zschüntzsch, Jana
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9344914/
https://www.ncbi.nlm.nih.gov/pubmed/35928135
http://dx.doi.org/10.3389/fneur.2022.893605

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