Varaico: Literature-Extracted Genetic Variants

Gene:POMT2
Variant:p.L229F
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POMT2

NM_013382.7:p.L229F

Associated Papers

Genetic findings in Czech patients with limb girdle muscular dystrophy.

Zídková J et al.

Clinical Genetics, 2023

Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.

Ek M et al.

Frontiers in Neurology, 2023

37273706 (PubMed )
Supplement: Table_3.xlsx › Sheet1
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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."