Varaico: Literature-Extracted Genetic Variants

Gene:KRT6C
Variant:p.M1T
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KRT6C

NM_173086.5:p.M1T

Associated Papers

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1871.656

Mutations in serine protease inhibitor Kazal type 1 are strongly associated with chronic pancreatitis.

Drenth JP et al.

Gut, 2002

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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."