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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ATP11C

Variant:p.I104_K105insFs

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ATP11C

NM_001353812.2:p.I104_K105insFs

hg38:chrX:139816869 G>GA

Associated Papers

Diagnostic yield and novel candidate genes by next generation sequencing in 166 children with intrahepatic cholestasis.

Zheng Y et al.

Hepatology International, 2024

37314652 (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."