Varaico: Literature-Extracted Genetic Variants

Gene:CRLF1
Variant:p.P239fs
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CRLF1

NM_004750.5:p.P239fs

Associated Papers

Mutations in CRLF1 cause familial achalasia.

Busch A et al.

Clinical Genetics, 2017

Expanding the mutational spectrum of CRLF1 in Crisponi/CISS1 syndrome.

Piras R et al.

Human Mutation, 2014

Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.

Herholz J et al.

European Journal of Human Genetics : Ejhg, 2011

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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."