Varaico: Literature-Extracted Genetic Variants

Gene:IGHMBP2
Variant:p.Y368Y
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IGHMBP2

NM_002180.3:p.Y368Y

Associated Papers

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Fichna JP et al.

Human Genomics, 2018

29970176 (PubMed )
Supplement: 40246_2018_167_MOESM2_ESM.xlsx › individual

[Infantile spinal atrophy: our experience in the last 25 years].

Madrid Rodríguez A et al.

Anales De Pediatria (barcelona, Spain : 2003), 2015

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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."