Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.P67S
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CFTR

NM_000492.4:p.P67S

Associated Papers

Integrative analysis reveals clinically relevant molecular fingerprints in pancreatic cancer.

Song L et al.

Molecular Therapy. Nucleic Acids, 2021

34513290 (PubMed )
Supplement: mmc3.xlsx › Table_S3

Analysis of cystic fibrosis-associated P67L CFTR illustrates barriers to personalized therapeutics for orphan diseases.

Sabusap CM et al.

Jci Insight, 2016

Association analyses of genetic polymorphisms of GSTM1, GSTT1, NQO1, NAT2, LPL, PRSS1, PSTI, and CFTR with chronic alcoholic pancreatitis in Japan.

Maruyama K et al.

Alcoholism, Clinical and Experimental Research, 2010

Misfolding of the cystic fibrosis transmembrane conductance regulator and disease.

Cheung JC et al.

Biochemistry, 2008

Functional characterization of a novel CFTR mutation P67S identified in a patient with atypical cystic fibrosis.

Kraus C et al.

Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology, 2007

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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."