Varaico: Literature-Extracted Genetic Variants

Gene:CAT
Variant:p.P172R
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CAT

NM_001752.4:p.P172R

Associated Papers

Point mutations throughout the GLI3 gene cause Greig cephalopolysyndactyly syndrome.

Kalff-Suske M et al.

Human Molecular Genetics, 1999

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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."