Varaico: Literature-Extracted Genetic Variants

Gene:ISL1
Variant:p.N252S
Back to variants list

ISL1

NM_002202.3:p.N252S

Associated Papers

Identification and Functional Characterization of an ISL1 Mutation Predisposing to Dilated Cardiomyopathy.

Xu YJ et al.

Journal of Cardiovascular Translational Research, 2019

Analyses of more than 60,000 exomes questions the role of numerous genes previously associated with dilated cardiomyopathy.

Nouhravesh N et al.

Molecular Genetics & Genomic Medicine, 2016

Haploinsufficiency of insulin gene enhancer protein 1 (ISL1) is associated with d-transposition of the great arteries.

Osoegawa K et al.

Molecular Genetics & Genomic Medicine, 2014

A novel genetic variant in the transcription factor Islet-1 exerts gain of function on myocyte enhancer factor 2C promoter activity.

Friedrich FW et al.

European Journal of Heart Failure, 2013

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."