Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.V56M
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MYH9

NM_002473.6:p.V56M

Associated Papers

Effects of specific disease mutations in non-muscle myosin 2A on its structure and function.

Casas-Mao D et al.

The Journal of Biological Chemistry, 2024

38042490 (PubMed )
Supplement: mmc1.docx

Assessing variants of uncertain significance implicated in hearing loss using a comprehensive deafness proteome.

Tollefson MR et al.

Human Genetics, 2023

37086329 (PubMed )
Supplement: 439_2023_2559_MOESM3_ESM.xlsx › Sheet1

Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders.

Wang T et al.

Nature Communications, 2020

33004838 (PubMed )
Supplement: 41467_2020_18723_MOESM6_ESM.xlsx › Supplementary_Data_4
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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."