Varaico: Literature-Extracted Genetic Variants

Gene:USP13
Variant:p.R480C
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USP13

NM_003940.3:p.R480C

Associated Papers

Whole exome sequencing identifies a POLRID mutation segregating in a father and two daughters with findings of Klippel-Feil and Treacher Collins syndromes.

Giampietro PF et al.

American Journal of Medical Genetics. Part A, 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."