Varaico: Literature-Extracted Genetic Variants

Gene:IGHMBP2
Variant:p.G354Splc
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IGHMBP2

NM_002180.3:p.G354Splc

Associated Papers

The clinical and genetic profiles of spinal muscular atrophy with respiratory distress type 1 and identification of a novel mutation in IGHMBP2 in China.

Wang Y et al.

Frontiers in Genetics, 2025

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."