Varaico: Literature-Extracted Genetic Variants

Gene:CLCF1
Variant:p.Y107*
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CLCF1

NM_013246.3:p.Y107*

Associated Papers

Crisponi syndrome/cold-induced sweating syndrome type 2: Reprogramming of CS/CISS2 individual derived fibroblasts into three clones of one iPSC line.

Buers I et al.

Stem Cell Research, 2020

Cold-induced sweating syndrome: CISS1 and CISS2: manifestations from infancy to adulthood. Four new cases.

Hahn AF et al.

Journal of the Neurological Sciences, 2010

Cold-induced sweating syndrome: a report of two cases and demonstration of genetic heterogeneity.

Hahn AF et al.

Journal of the Neurological Sciences, 2006

Inactivation of cardiotrophin-like cytokine, a second ligand for ciliary neurotrophic factor receptor, leads to cold-induced sweating syndrome in a patient.

Rousseau F et al.

Proceedings of the National Academy of Sciences of the United States of America, 2006

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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."