The GDAP1 p.Glu222Lys Variant-Weak Pathogenic Effect, Cumulative Effect of Weak Sequence Variants, or Synergy of Both Factors?

Charcot–Marie–Tooth disorders (CMT) represent a highly heterogeneous group of diseases of the peripheral nervous system in which more than 100 genes are involved. In some CMT patients, a few weak sequence variants toward other CMT genes are detected instead of one leading CMT mutation. Thus, the pre...

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Detalles Bibliográficos
Autores principales: Kabzińska, Dagmara, Chabros, Katarzyna, Kamińska, Joanna, Kochański, Andrzej
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2022
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498914/
https://www.ncbi.nlm.nih.gov/pubmed/36140714
http://dx.doi.org/10.3390/genes13091546

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9498914/
https://www.ncbi.nlm.nih.gov/pubmed/36140714
http://dx.doi.org/10.3390/genes13091546

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