Varaico: Literature-Extracted Genetic Variants

Gene:IGHMBP2
Variant:p.G513Splc
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IGHMBP2

NM_002180.3:p.G513Splc

Associated Papers

Spinal muscular atrophy with respiratory distress type 1 associated with novel compound heterozygous mutations in IGHMBP2: Differential diagnosis in a case with congenital diaphragm eventration.

Yasui Y et al.

Congenital Anomalies, 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."