Varaico: Literature-Extracted Genetic Variants

Gene:CDHR1
Variant:p.P812S
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CDHR1

NM_033100.4:p.P812S

Associated Papers

Rare and common variants in ROM1 and PRPH2 genes trans-modify Stargardt/ABCA4 disease.

Zernant J et al.

Plos Genetics, 2022

35353811 (PubMed )
Supplement: pgen.1010129.s002.xlsx › Sheet1

Exome sequencing of a large family identifies potential candidate genes contributing risk to bipolar disorder.

Zhang T et al.

Gene, 2018

Non-homologous recombination between Alu and LINE-1 repeats results in a 91 kb deletion in MERTK causing severe retinitis pigmentosa.

Jonsson F et al.

Molecular Vision, 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."