Varaico: Literature-Extracted Genetic Variants

Gene:SMG7
Variant:p.P819A
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SMG7

NM_001375584.1:p.P819A

Associated Papers

CRISPR-based knockout and base editing confirm the role of MYRF in heart development and congenital heart disease.

Doering L et al.

Disease Models & Mechanisms, 2023

37584388 (PubMed )
Supplement: dmm-16-049811-s1.pdf

Exome-Based Case-Control Analysis Highlights the Pathogenic Role of Ciliary Genes in Transposition of the Great Arteries.

Liu X et al.

Circulation Research, 2020

32078439 (PubMed )
Supplement: 315821_online.pdf
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