Varaico: Literature-Extracted Genetic Variants

Gene:IGHMBP2
Variant:p.H401R
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IGHMBP2

NM_002180.3:p.H401R

Associated Papers

[A case of Charcot-Marie-Tooth disease type 2S caused by mutation of IGHMBP2 gene].

Xiao MJ et al.

Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2022

Diagnostic Yields of Trio-WES Accompanied by CNVseq for Rare Neurodevelopmental Disorders.

Gao C et al.

Frontiers in Genetics, 2019

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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."