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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RCC1

Variant:p.V164V

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RCC1

NM_001381865.2:p.V164V

hg38:chr1:28535100 G>A

Associated Papers

Phenotypic conservation in patients with X-linked retinitis pigmentosa caused by RPGR mutations.

Zahid S et al.

Jama Ophthalmology, 2013

23681342 (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."