Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.R55T
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CFTR

NM_000492.4:p.R55T

Associated Papers

Systematic estimation of cystic fibrosis prevalence in Chinese and genetic spectrum comparison to Caucasians.

Ni Q et al.

Orphanet Journal of Rare Diseases, 2022

35313924 (PubMed )
Supplement: 13023_2022_2279_MOESM1_ESM.xls › TableS1_CFTR_sites

Functional significance of SPINK1 promoter variants in chronic pancreatitis.

Derikx MH et al.

American Journal of Physiology. Gastrointestinal and Liver Physiology, 2015

Genetics and pathogenesis of chronic pancreatitis: the 2012 update.

Chen JM et al.

Clinics and Research in Hepatology and Gastroenterology, 2012

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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."