Varaico: Literature-Extracted Genetic Variants

Gene:ISL1
Variant:p.H101R
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ISL1

NM_002202.3:p.H101R

Associated Papers

Evaluation of the ISL1 gene in the pathogenesis of bladder exstrophy in a Swedish cohort.

Arkani S et al.

Human Genome Variation, 2018

Inherited Cardiomyopathies and the Role of Mutations in Non-coding Regions of the Genome.

Salman OF et al.

Frontiers in Cardiovascular Medicine, 2018

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

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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."