Varaico: Literature-Extracted Genetic Variants

Gene:CMYA5
Variant:p.A2958S
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CMYA5

NM_153610.5:p.A2958S

Associated Papers

Identification of a novel MYO1D variant associated with laterality defects, congenital heart diseases, and sperm defects in humans.

Yuan Z et al.

Frontiers of Medicine, 2024

Whole genome sequencing identifies genetic variants associated with neurogenic inflammation in rosacea.

Deng Z et al.

Nature Communications, 2023

37402769 (PubMed )
Supplement: 41467_2023_39761_MOESM5_ESM.xlsx › original

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_MOESM3_ESM.xlsx › skeletal_muscle_without_known
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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."