Varaico: Literature-Extracted Genetic Variants

Gene:CRLF1
Variant:p.R277*
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CRLF1

NM_004750.5:p.R277*

Associated Papers

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

Piras R et al.

Human Mutation, 2014

A new Turkish infant with clinical features of CS/CISS1 syndrome and homozygous CRLF1 mutation.

Moortgat S et al.

European Journal of Medical Genetics, 2014

Crisponi syndrome: a new case with additional features and new mutation in CRLF1.

Okur I et al.

American Journal of Medical Genetics. Part A, 2008

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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."