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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPGRIP1

Variant:p.F1148L

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RPGRIP1

NM_020366.4:p.F1148L

hg38:chr14:21343138 T>C

Associated Papers

Mutation analysis of Leber congenital amaurosis‑associated genes in patients with retinitis pigmentosa.

Shen T et al.

Molecular Medicine Reports, 2015

25377065 (PubMed )

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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."