Varaico: Literature-Extracted Genetic Variants

Gene:ISL1
Variant:p.K10Splc
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ISL1

NM_002202.3:p.K10Splc

Associated Papers

A New ISL1 Loss-of-Function Mutation Predisposes to Congenital Double Outlet Right Ventricle.

Wang Z et al.

International Heart Journal, 2019

ISL1 loss-of-function mutation contributes to congenital heart defects.

Ma L et al.

Heart and Vessels, 2019

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

Arkani S et al.

Human Genome Variation, 2018

Association between ISL1 variants and susceptibility to ventricular septal defect in a Chinese cohort.

Lang J et al.

Molecular Diagnosis & Therapy, 2013

Common variation in ISL1 confers genetic susceptibility for human congenital heart disease.

Stevens KN et al.

Plos One, 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."