Varaico: Literature-Extracted Genetic Variants

Gene:IGHMBP2
Variant:p.A140fs
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IGHMBP2

NM_002180.3:p.A140fs

Associated Papers

Case report: Heterozygous variation in the IGHMBP2 gene leading to spinal muscular atrophy with respiratory distress type 1.

Zhou C et al.

Frontiers in Neurology, 2024

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