Varaico: Literature-Extracted Genetic Variants

Gene:C6
Variant:p.V52I
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C6

NM_000065.5:p.V52I

Associated Papers

Impaired glutamylation of RPGRORF15 underlies the cone-dominated phenotype associated with truncating distal ORF15 variants.

Cehajic-Kapetanovic J et al.

Proceedings of the National Academy of Sciences of the United States of America, 2022

36445968 (PubMed )
Supplement: pnas.2208707119.sapp.pdf

VEGF is a modifier of amyotrophic lateral sclerosis in mice and humans and protects motoneurons against ischemic death.

Lambrechts D et al.

Nature Genetics, 2003

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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."