Varaico: Literature-Extracted Genetic Variants

Gene:CACNA2D4
Variant:p.H696R
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CACNA2D4

NM_172364.5:p.H696R

Associated Papers

Molecular Diagnosis of Inherited Retinal Diseases in Indigenous African Populations by Whole-Exome Sequencing.

Roberts L et al.

Investigative Ophthalmology & Visual Science, 2016

27898983 (PubMed )
Supplement: iovs-57-14-17_s03.xlsx › 226RetnetDATA2P6M6A0ORout

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination.

Coppieters F et al.

American Journal of Human Genetics, 2016

27486781 (PubMed )
Supplement: mmc1.pdf

Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.

Nava C et al.

Amino Acids, 2015

26215737 (PubMed )
Supplement: 726_2015_2057_MOESM2_ESM.xlsx › Sup_Table_3
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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."