Varaico: Literature-Extracted Genetic Variants

Gene:CYP7B1
Variant:p.L180L
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CYP7B1

NM_004820.5:p.L180L

Associated Papers

A review of the genetic spectrum of hereditary spastic paraplegias, inherited neuropathies and spinal muscular atrophies in Africans.

Mahungu AC et al.

Orphanet Journal of Rare Diseases, 2022

35331287 (PubMed )
Supplement: 13023_2022_2280_MOESM1_ESM.xlsx › Sheet1

Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity.

Boukhris A et al.

Clinical Genetics, 2009

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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."