Varaico: Literature-Extracted Genetic Variants

Gene:KLHL7
Variant:p.Q171Q
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KLHL7

NM_001031710.3:p.Q171Q

Associated Papers

Mutations in a BTB-Kelch protein, KLHL7, cause autosomal-dominant retinitis pigmentosa.

Friedman JS et al.

American Journal of Human Genetics, 2009

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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."