Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.Y517H
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CFTR

NM_000492.4:p.Y517H

Associated Papers

Clinical and genetic features of cystic fibrosis in Japan.

Kozawa Y et al.

Journal of Human Genetics, 2023

A comprehensive review of cystic fibrosis in Africa and Asia.

Abubakar Bobbo K et al.

Saudi Journal of Biological Sciences, 2023

[Cystic fibrosis with focal biliary cirrhosis and portal hypertension in Japan: a case report].

Yamamoto A et al.

Nihon Shokakibyo Gakkai Zasshi = the Japanese Journal of Gastro-enterology, 2021

SPINK1, PRSS1, CTRC, and CFTR Genotypes Influence Disease Onset and Clinical Outcomes in Chronic Pancreatitis.

Zou WB et al.

Clinical and Translational Gastroenterology, 2018

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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."