Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.R1263W
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MYBPC3

NM_000256.3:p.R1263W

Associated Papers

The Definition of Sarcomeric and Non-Sarcomeric Gene Mutations in Hypertrophic Cardiomyopathy Patients: A Multicenter Diagnostic Study Across Türkiye.

Oktay V et al.

Anatolian Journal of Cardiology, 2023

The penetrance of rare variants in cardiomyopathy-associated genes: A cross-sectional approach to estimating penetrance for secondary findings.

McGurk KA et al.

American Journal of Human Genetics, 2023

37652022 (PubMed )
Supplement: mmc3.xlsx › Table_S10

Whole-exome sequencing in searching for novel variants associated with the development of high altitude pulmonary edema.

Chen M et al.

Gene, 2023

TTR variants in patients with dilated cardiomyopathy: An investigation of the DCM Precision Medicine Study.

Trachtenberg BH et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

Computational prediction of protein subdomain stability in MYBPC3 enables clinical risk stratification in hypertrophic cardiomyopathy and enhances variant interpretation.

Thompson AD et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

33782553 (PubMed )
Supplement: NIHMS1689970-supplement-Table_S1.xlsx › Sheet1

Reevaluating the Genetic Contribution of Monogenic Dilated Cardiomyopathy.

Mazzarotto F et al.

Circulation, 2020

31983221 (PubMed )
Supplement: cir-141-387-s002.xlsx › Table_S7

Multiple gene dysfunctions lead to high cancer-susceptibility: evidences from a whole-exome sequencing study.

He ML et al.

American Journal of Cancer Research, 2011

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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."