Varaico: Literature-Extracted Genetic Variants

Gene:CST6
Variant:p.G84D
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CST6

NM_001323.4:p.G84D

Associated Papers

Loss-of-function mutations in CST6 cause dry skin, desquamation and abnormal keratosis without hypotrichosis.

Wang X et al.

Clinical Genetics, 2023

Diverse modes of genomic alteration in hepatocellular carcinoma.

Jhunjhunwala S et al.

Genome Biology, 2014

25159915 (PubMed )
Supplement: 13059_2014_436_MOESM1_ESM.xlsx › Table_S2
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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."