Varaico: Literature-Extracted Genetic Variants

Gene:TNNI3
Variant:p.D196G
Back to variants list

TNNI3

NM_000363.5:p.D196G

Associated Papers

Ethnicity, consanguinity, and genetic architecture of hypertrophic cardiomyopathy.

Allouba M et al.

European Heart Journal, 2023

37431535 (PubMed )
Supplement: ehad372_supplementary_data.zip › supplementary_tables_revised_version_Feb2023.xlsx › Table_S4

Shared genetic pathways contribute to risk of hypertrophic and dilated cardiomyopathies with opposite directions of effect.

Tadros R et al.

Nature Genetics, 2021

33495596 (PubMed )
Supplement: EMS114661-supplement-Supplementary_Tables.xlsx › ST2

A case report of recessive restrictive cardiomyopathy caused by a novel mutation in cardiac troponin I (TNNI3).

Pantou MP et al.

Bmc Medical Genetics, 2019

Quantitative approaches to variant classification increase the yield and precision of genetic testing in Mendelian diseases: the case of hypertrophic cardiomyopathy.

Walsh R et al.

Genome Medicine, 2019

30696458 (PubMed )
Supplement: 13073_2019_616_MOESM1_ESM.xlsx › Table_S6

Identification of rare variants in TNNI3 with atrial fibrillation in a Chinese GeneID population.

Wang C et al.

Molecular Genetics and Genomics : Mgg, 2016

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."