Varaico: Literature-Extracted Genetic Variants

Gene:CHD5
Variant:p.R1621Q
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CHD5

NM_015557.3:p.R1621Q

Associated Papers

Clinical significance of genetic variation in hypertrophic cardiomyopathy: comparison of computational tools to prioritize missense variants.

Barbosa P et al.

Frontiers in Cardiovascular Medicine, 2022

36061567 (PubMed )
Supplement: Table_1.XLSX › Table_S6

Mechanisms of CHD5 Inactivation in neuroblastomas.

Koyama H et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2012

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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."