Varaico: Literature-Extracted Genetic Variants

Gene:VAPB
Variant:p.R19L
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VAPB

NM_004738.5:p.R19L

Associated Papers

Common and rare variants in patients with early onset drusen maculopathy.

de Breuk A et al.

Clinical Genetics, 2022

36053979 (PubMed )
Supplement: CGE-102-414-s002.xlsx › All_variants_in_candidate_genes

A systematic screening to identify de novo mutations causing sporadic early-onset Parkinson's disease.

Kun-Rodrigues C et al.

Human Molecular Genetics, 2015

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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."