Varaico: Literature-Extracted Genetic Variants

Gene:MYOM2
Variant:p.A197V
Back to variants list

MYOM2

NM_003970.4:p.A197V

Associated Papers

Case Report: Tetralogy of Fallot in a Chinese Family Caused by a Novel Missense Variant of MYOM2.

Wang J et al.

Frontiers in Cardiovascular Medicine, 2022

Identification of MYOM2 as a candidate gene in hypertrophic cardiomyopathy and Tetralogy of Fallot, and its functional evaluation in the Drosophila heart.

Auxerre-Plantié E et al.

Disease Models & Mechanisms, 2020

Rare and private variations in neural crest, apoptosis and sarcomere genes define the polygenic background of isolated Tetralogy of Fallot.

Grunert M et al.

Human Molecular Genetics, 2014

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Seddon JM et al.

Nature Genetics, 2013

24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B

IL-4 and TNF-α polymorphisms are associated with risk of multiple superficial tumors or carcinoma in situ development.

Lima L et al.

Urologia Internationalis, 2011

Patient-derived glioblastoma organoids reflect tumor heterogeneity and treatment sensitivity.

Verduin M et al.

Neuro-oncology Advances, 0

38130902 (PubMed )
Supplement: vdad152_suppl_supplementary_materials_5.xlsx › SNVs
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."