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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:FAM131B

Variant:p.L249F

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FAM131B

NM_001031690.3:p.L249F

hg38:chr7:143356888 G>A

Associated Papers

The role of LSR gene variants in early onset intrahepatic cholestasis: a case series with treatment options.

Ohlsson S et al.

Frontiers in Pediatrics, 2025

40980121 (PubMed )

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