Varaico: Literature-Extracted Genetic Variants

Gene:ISL1
Variant:p.A160Splc
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ISL1

NM_002202.3:p.A160Splc

Associated Papers

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

Xu YJ et al.

Journal of Cardiovascular Translational Research, 2019

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

Arkani S et al.

Human Genome Variation, 2018

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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."