Varaico: Literature-Extracted Genetic Variants

Gene:CYP7B1
Variant:p.N296K
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CYP7B1

NM_004820.5:p.N296K

Associated Papers

The Genetic Landscape of Hereditary Spastic Paraplegia in Greece.

Koutsis G et al.

Clinical Genetics, 2025

Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses.

Laurie S et al.

Nature Medicine, 2025

39825153 (PubMed )
Supplement: 41591_2024_3420_MOESM3_ESM.xlsx › SuppTableS4.Disease_Causing
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