Varaico: Literature-Extracted Genetic Variants

Gene:MAK
Variant:p.P325L
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MAK

NM_001242957.3:p.P325L

Associated Papers

Exome sequencing and cis-regulatory mapping identify mutations in MAK, a gene encoding a regulator of ciliary length, as a cause of retinitis pigmentosa.

Ozgül RK et al.

American Journal of Human Genetics, 2011

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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."