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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GPC4

Variant:p.S490Splc

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GPC4

NM_001448.3:p.S490Splc

hg38:chrX:133303073 G>A

Associated Papers

Case Report: A Rare Heterozygous ATP8B1 Mutation in a BRIC1 Patient: Haploinsufficiency?

Bing H et al.

Frontiers in Medicine, 2022

35783636 (PubMed )

Supplement: Table_1.pdf

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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."