Varaico: Literature-Extracted Genetic Variants

Gene:MAK
Variant:p.C133fs
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MAK

NM_001242957.3:p.C133fs

Associated Papers

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

Gray JM et al.

Ophthalmic Genetics, 2018

Nonsyndromic Retinitis Pigmentosa in the Ashkenazi Jewish Population: Genetic and Clinical Aspects.

Kimchi A et al.

Ophthalmology, 2018

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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."