Varaico: Literature-Extracted Genetic Variants

Gene:CRLF1
Variant:p.R312H
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CRLF1

NM_004750.5:p.R312H

Associated Papers

Infant developmental profile of Crisponi syndrome due to compound heterozygosity for CRLF1 deletion.

Schierz IAM et al.

Clinical Dysmorphology, 2020

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

Piras R et al.

Human Mutation, 2014

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 type 1, with a CRLF1 level mutation, previously associated with Crisponi syndrome.

González Fernández D et al.

Dermatology (basel, Switzerland), 2013

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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."