Varaico: Literature-Extracted Genetic Variants

Gene:IGHMBP2
Variant:p.G61R
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IGHMBP2

NM_002180.3:p.G61R

Associated Papers

Clinical and Genetic Landscape of IGHMBP2 -Related Disorders: From Novel Variants to Phenotypic Insights.

Tkemaladze T et al.

American Journal of Medical Genetics. Part A, 2025

Next-generation sequencing in Charcot-Marie-Tooth: a proposal for improvement of ACMG guidelines for variant evaluation.

Geroldi A et al.

Journal of Medical Genetics, 2024

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