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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CLCF1

Variant:p.Q180insFs

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CLCF1

NM_013246.3:p.Q180insFs

hg38:chr11:67365276 G>GT

Associated Papers

Differential secretion of the mutated protein is a major component affecting phenotypic severity in CRLF1-associated disorders.

Herholz J et al.

European Journal of Human Genetics : Ejhg, 2011

21326283 (PubMed )

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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."