Varaico: Literature-Extracted Genetic Variants

Gene:MYOM2
Variant:p.D434E
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MYOM2

NM_003970.4:p.D434E

Associated Papers

The genetics of autism spectrum disorder in an East African familial cohort.

Tuncay IO et al.

Cell Genomics, 2023

37492102 (PubMed )
Supplement: mmc7.xlsx › Table_S6

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 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
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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."