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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PPOX

Variant:p.L116F

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PPOX

NM_001122764.3:p.L116F

hg38:chr1:161168002 C>T

Associated Papers

Molecular characterisation of acute intermittent porphyria in a cohort of South African patients and kinetic analysis of two expressed mutants.

Fortgens P et al.

Journal of Clinical Pathology, 2017

27849156 (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."