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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:XIRP1

Variant:p.E298K

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XIRP1

NM_194293.4:p.E298K

hg38:chr3:39188554 C>T

Associated Papers

Identification of novel mutations of the CLCN1 gene for myotonia congenital in China.

Meng YX et al.

Neurological Research, 2016

27118449 (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."