Varaico: Literature-Extracted Genetic Variants

Gene:MAK
Variant:p.N130S
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MAK

NM_001242957.3:p.N130S

Associated Papers

Genome resequencing and bioinformatic analysis of SNP containing candidate genes in the autoimmune vitiligo Smyth line chicken model.

Jang HM et al.

Bmc Genomics, 2014

25151476 (PubMed )
Supplement: 12864_2013_6386_MOESM1_ESM.xlsx › SNPs_in_CDS

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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