Varaico: Literature-Extracted Genetic Variants

Gene:MAK
Variant:p.K22N
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MAK

NM_001242957.3:p.K22N

Associated Papers

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

Gray JM et al.

Ophthalmic Genetics, 2018

Autosomal recessive retinitis pigmentosa caused by mutations in the MAK gene.

Stone EM et al.

Investigative Ophthalmology & Visual Science, 2011

Disease expression of RP1 mutations causing autosomal dominant retinitis pigmentosa.

Jacobson SG et al.

Investigative Ophthalmology & Visual Science, 2000

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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."