Varaico: Literature-Extracted Genetic Variants

Gene:C2
Variant:p.P52R
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C2

NM_000063.6:p.P52R

Associated Papers

Biallelic sequence and structural variants in RAX2 are a novel cause for autosomal recessive inherited retinal disease.

Van de Sompele S et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30377383 (PubMed )
Supplement: 41436_2018_345_MOESM1_ESM.docx
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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."