Varaico: Literature-Extracted Genetic Variants

Gene:CRLF1
Variant:p.R176K
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CRLF1

NM_004750.5:p.R176K

Associated Papers

Crisponi syndrome is caused by mutations in the CRLF1 gene and is allelic to cold-induced sweating syndrome type 1.

Crisponi L et al.

American Journal of Human Genetics, 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."