Varaico: Literature-Extracted Genetic Variants

Gene:IGHMBP2
Variant:p.L91P
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IGHMBP2

NM_002180.3:p.L91P

Associated Papers

Novel biallelic nonsense mutation in IGHMBP2 gene linked to neuropathy (CMT2S): A comprehensive clinical, genetic and bioinformatic analysis of a Turkish patient with literature review.

Yavas C et al.

Brain & Development, 2025

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

Genotype and phenotype distribution of 435 patients with Charcot-Marie-Tooth disease from central south China.

Xie Y et al.

European Journal of Neurology, 2021

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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."