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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFAP418

Variant:p.T120A

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CFAP418

NM_177965.4:p.T120A

hg38:chr8:95259856 T>C

Associated Papers

A nonsense mutation in C8orf37 linked with retinitis pigmentosa, early macular degeneration, cataract, and myopia in an arRP family from North India.

Goyal S et al.

Bmc Ophthalmology, 2023

37170250 (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."