Varaico: Literature-Extracted Genetic Variants

Gene:IGHMBP2
Variant:p.Y920C
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IGHMBP2

NM_002180.3:p.Y920C

Associated Papers

Genotype-phenotype correlations of AR-CMT2S in a cohort of axonal Charcot-Marie-Tooth patients from Central South China.

Liu L et al.

Journal of the Peripheral Nervous System : Jpns, 2024

Clinically relevant mouse models of Charcot-Marie-Tooth type 2S.

Martin PB et al.

Human Molecular Genetics, 2023

Clinical diversity caused by novel IGHMBP2 variants.

Yuan JH et al.

Journal of Human Genetics, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."