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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RP1

Variant:p.A1708V

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RP1

NM_006269.2:p.A1708V

hg38:chr8:54629005 C>T

Associated Papers

Association of Clinical and Genetic Heterogeneity With BEST1 Sequence Variations.

Shah M et al.

Jama Ophthalmology, 2020

32239196 (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."