Varaico: Literature-Extracted Genetic Variants

Gene:CLCF1
Variant:p.R197L
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CLCF1

NM_013246.3:p.R197L

Associated Papers

Insights into the regulation and signaling landscape of cardiotrophin-like cytokine factor 1 (CLCF1).

Rousseau M et al.

Biochimica Et Biophysica Acta. Molecular Cell Research, 2026

Structural insights into the assembly of gp130 family cytokine signaling complexes.

Zhou Y et al.

Science Advances, 2023

Multiple small hyperintense lesions in the subcortical white matter on cranial MR images in two Turkish brothers with cold-induced sweating syndrome caused by a novel missense mutation in the CRLF1 gene.

Tüysüz B et al.

Brain & Development, 2013

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."