Varaico: Literature-Extracted Genetic Variants

Gene:MYH9
Variant:p.D1409N
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MYH9

NM_002473.6:p.D1409N

Associated Papers

The Clinical Details of MYH9-Related Disease and DFNA17 in a Large Japanese Hearing Loss Cohort.

Goto S et al.

Genes, 2026

Actomyosin contractility and a threshold of cadherin cell adhesion are required during tissue fusion.

Teng CS et al.

The Journal of Cell Biology, 2026

41231213 (PubMed )
Supplement: jcb_202503070_tables2.xlsx › Sheet1

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

Genomic analyses of germline and somatic variation in high-grade serous ovarian cancer.

Adamson AW et al.

Journal of Ovarian Research, 2023

37460928 (PubMed )
Supplement: 13048_2023_1234_MOESM2_ESM.xlsx › Table_S10__

Next-generation sequencing for the diagnosis of MYH9-RD: Predicting pathogenic variants.

Bury L et al.

Human Mutation, 2020

31562665 (PubMed )
Supplement: HUMU-41-277-s001.pdf

Precision Health Resource of Control iPSC Lines for Versatile Multilineage Differentiation.

Hildebrandt MR et al.

Stem Cell Reports, 2019

31813827 (PubMed )
Supplement: mmc3.xlsx › SNVs

Application of whole-exome sequencing to direct the specific functional testing and diagnosis of rare inherited bleeding disorders in patients from the Öresund Region, Scandinavia.

Leinøe E et al.

British Journal of Haematology, 2017

28748566 (PubMed )
Supplement: BJH-179-308-s001.docx

Human phenotype ontology annotation and cluster analysis to unravel genetic defects in 707 cases with unexplained bleeding and platelet disorders.

Westbury SK et al.

Genome Medicine, 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."