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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:HCFC1

Variant:p.G1264S

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HCFC1

NM_005334.3:p.G1264S

hg38:chrX:153954609 C>T

Associated Papers

HCFC1 variants in the proteolysis domain are associated with X-linked idiopathic partial epilepsy: Exploring the underlying mechanism.

He N et al.

Clinical and Translational Medicine, 2023

37264743 (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."