Varaico: Literature-Extracted Genetic Variants

Gene:DGKK
Variant:p.K1166N
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DGKK

NM_001013742.4:p.K1166N

Associated Papers

Mutations in NDUFB11, encoding a complex I component of the mitochondrial respiratory chain, cause microphthalmia with linear skin defects syndrome.

van Rahden VA et al.

American Journal of Human Genetics, 2015

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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."