Varaico: Literature-Extracted Genetic Variants

Gene:HAP1
Variant:p.R116W
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HAP1

NM_177977.3:p.R116W

Associated Papers

Exome sequencing in families with chronic central serous chorioretinopathy.

Schellevis RL et al.

Molecular Genetics & Genomic Medicine, 2019

30724488 (PubMed )
Supplement: MGG3-7-na-s005.xlsx › Family_13

Exome array analysis identifies CAV1/CAV2 as a susceptibility locus for intraocular pressure.

Chen F et al.

Investigative Ophthalmology & Visual Science, 2014

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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."