Varaico: Literature-Extracted Genetic Variants

Gene:CRLF1
Variant:p.S259*
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CRLF1

NM_004750.5:p.S259*

Associated Papers

Clinical and molecular genetic findings of Crisponi/cold-induced sweating syndrome (CS/CISS) spectrum in patients from Turkey.

Yilmaz Gulec E et al.

Clinical Genetics, 2022

Three new cases of Crisponi /cold induced sweating syndrome (CS/CISS1) in Turkish families.

Kolkiran A et al.

European Journal of Medical Genetics, 2021

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

Piras R et al.

Human Mutation, 2014

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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."