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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:CFTR

Variant:p.R851_T854del4

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CFTR

NM_000492.4:p.R851_T854del4

hg38:chr7:117594988 TTCGATATATTAC>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."