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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ALG6

Variant:p.P467S

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ALG6

NM_013339.4:p.P467S

hg38:chr1:63436895 C>T

Associated Papers

Neonatal intrahepatic cholestasis caused by citrin deficiency: clinical features, genetic characteristics, and treatment outcomes.

Zou Y et al.

Bmc Gastroenterology, 2025

40665261 (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."