Varaico: Literature-Extracted Genetic Variants

Gene:NPHP3
Variant:p.A150V
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NPHP3

NM_153240.5:p.A150V

Associated Papers

Genetic and clinical findings in a Chinese cohort with Leber congenital amaurosis and early onset severe retinal dystrophy.

Xu K et al.

The British Journal of Ophthalmology, 2020

Exome Sequencing Identifies Compound Heterozygous Mutations in SCN5A Associated with Congenital Complete Heart Block in the Thai Population.

Thongnak C et al.

Disease Markers, 2016

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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."