Varaico: Literature-Extracted Genetic Variants

Gene:CFTR
Variant:p.P111S
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CFTR

NM_000492.4:p.P111S

Associated Papers

cblC: advances in defining the MMACHC mutation spectrum.

Kraus JP

Human Mutation, 2009

Genetic heterogeneity and cystic fibrosis.

Cutting GR

Human Mutation, 2009

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."