Varaico: Literature-Extracted Genetic Variants

Gene:MYBPC3
Variant:p.P1245delFs
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MYBPC3

NM_000256.3:p.P1245delFs

Associated Papers

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_S8

Spatial and Functional Distribution of MYBPC3 Pathogenic Variants and Clinical Outcomes in Patients With Hypertrophic Cardiomyopathy.

Helms AS et al.

Circulation. Genomic and Precision Medicine, 2020

32841044 (PubMed )
Supplement: hcg-13-396-s001.pdf

Evaluating the Clinical Validity of Hypertrophic Cardiomyopathy Genes.

Ingles J et al.

Circulation. Genomic and Precision Medicine, 2019

30681346 (PubMed )
Supplement: hcg-12-e002460-s002.xlsx › Suppl_Table_8

Actionable secondary findings from whole-genome sequencing of 954 East Asians.

Tang CS et al.

Human Genetics, 2018

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples.

Walsh R et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27532257 (PubMed )
Supplement: gim201690x1.zip › Supplementary_Tables_resubmit.xlsx › Table_S1B

Screening Mutations of MYBPC3 in 114 Unrelated Patients with Hypertrophic Cardiomyopathy by Targeted Capture and Next-generation Sequencing.

Liu X et al.

Scientific Reports, 2015

A novel custom resequencing array for dilated cardiomyopathy.

Zimmerman RS et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2010

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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."