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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAK

Variant:p.C133fs

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MAK

NM_001242957.3:p.C133fs

hg38:chr6:10808902 A>AN

Associated Papers

Slowly progressive retinitis pigmentosa caused by two novel mutations in the MAK gene.

Gray JM et al.

Ophthalmic Genetics, 2018

29781741 (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."