Varaico: Literature-Extracted Genetic Variants

Gene:MYH7
Variant:p.R793Q
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MYH7

NM_000257.4:p.R793Q

Associated Papers

Genetic Testing Yield and Clinical Characteristics of Hypertrophic Cardiomyopathy in Understudied Ethnic Groups: Insights From a New Zealand National Registry.

Earle NJ et al.

Circulation. Heart Failure, 2024

38456273 (PubMed )
Supplement: hhf-17-e010970-s001.pdf

Response to olaparib in a PALB2 germline mutated prostate cancer and genetic events associated with resistance.

Horak P et al.

Cold Spring Harbor Molecular Case Studies, 2019

30833416 (PubMed )
Supplement: supp_mcs.a003657_Supplemental_Table_S1.xlsx › metastasis_snvs

Lack of evidence for a causal role of CALR3 in monogenic cardiomyopathy.

Verhagen JMA et al.

European Journal of Human Genetics : Ejhg, 2018

29988065 (PubMed )
Supplement: 41431_2018_208_MOESM1_ESM.docx
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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."