Varaico: Literature-Extracted Genetic Variants

Gene:MYL2
Variant:p.D48Y
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MYL2

NM_000432.4:p.D48Y

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

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

Combined DNA Analysis from Stool and Blood Samples Improves Tumor Tracking and Assessment of Clonal Heterogeneity in Localized Rectal Cancer Patients.

Parigger T et al.

Technology in Cancer Research & Treatment, 0

38766867 (PubMed )
Supplement: sj-xlsx-1-tct-10.1177_15330338241252706.xlsx › biopsy_mutations
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