Varaico: Literature-Extracted Genetic Variants

Gene:POMT2
Variant:p.L187F
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POMT2

NM_013382.7:p.L187F

Associated Papers

Rare Variant Burden and Behavioral Phenotypes in Children with Autism in Slovakia.

Repiská G et al.

Genes, 2025

40869941 (PubMed )
Supplement: genes-16-00893-s001.zip › File_S1.xlsx › suplement

Target resequencing of neuromuscular disease-related genes using next-generation sequencing for patients with undiagnosed early-onset neuromuscular disorders.

Kitamura Y et al.

Journal of Human Genetics, 2016

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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."