Varaico: Literature-Extracted Genetic Variants

Gene:EFEMP2
Variant:p.H292Y
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EFEMP2

NM_016938.5:p.H292Y

Associated Papers

CSRP3, p.Arg122*, is responsible for hypertrophic cardiomyopathy in a Chinese family.

Huang H et al.

The Journal of Gene Medicine, 2022

Rare coding variants and breast cancer risk: evaluation of susceptibility Loci identified in genome-wide association studies.

Zhang Y et al.

Cancer Epidemiology, Biomarkers & Prevention : a Publication of the American Association for Cancer Research, Cosponsored by the American Society of Preventive Oncology, 2014

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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."