Varaico: Literature-Extracted Genetic Variants

Gene:CHAF1A
Variant:p.K372del1
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CHAF1A

NM_005483.3:p.K372del1

Associated Papers

A novel missense variant c.G644A (p.G215E) of the RPGR gene in a Chinese family causes X-linked retinitis pigmentosa.

Fu J et al.

Bioscience Reports, 2019

31652454 (PubMed )
Supplement: BSR-2019-2235_supp.xlsx › Sheet1
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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."