Varaico: Literature-Extracted Genetic Variants

Gene:ISL1
Variant:p.P168P
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ISL1

NM_002202.3:p.P168P

Associated Papers

Association of ISL1 polymorphisms and eosinophilic levels among otitis media patients.

Kondyarpu A et al.

Journal of Clinical Laboratory Analysis, 2021

Distinctive mutational spectrum and karyotype disruption in long-term cisplatin-treated urothelial carcinoma cell lines.

Skowron MA et al.

Scientific Reports, 2019

31597922 (PubMed )
Supplement: 41598_2019_50891_MOESM12_ESM.xlsx › Unique_in_253J-LTT

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

Wang Z et al.

International Heart Journal, 2019

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

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."