Varaico: Literature-Extracted Genetic Variants

Gene:CTSB
Variant:p.C122Y
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CTSB

NM_001908.5:p.C122Y

Associated Papers

Uncertainties in the classification of human cationic trypsinogen (PRSS1) variants as hereditary pancreatitis-associated mutations.

Szmola R et al.

Journal of Medical Genetics, 2010

Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.

Teich N et al.

Human Mutation, 2006

[A case of chronic pancreatitis in a young woman with the cationic trypsinogen (PRSS1) gene mutation].

Kakinoki K et al.

Nihon Shokakibyo Gakkai Zasshi = the Japanese Journal of Gastro-enterology, 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."