Varaico: Literature-Extracted Genetic Variants

Gene:KDSR
Variant:p.Q55_G56del1
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KDSR

NM_002035.4:p.Q55_G56del1

Associated Papers

Mutations in KDSR Cause Recessive Progressive Symmetric Erythrokeratoderma.

Boyden LM et al.

American Journal of Human Genetics, 2017

Analysis of TYR Gene Pathogenic Variants in a Chinese Mongolian Family with Progressive Symmetric Erythrokeratoderma.

Duan Y et al.

Indian Dermatology Online Journal, 0

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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."