Varaico: Literature-Extracted Genetic Variants

Gene:PEX1
Variant:p.S800fs
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PEX1

NM_000466.3:p.S800fs

Associated Papers

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.

D'Gama AM et al.

The Lancet. Neurology, 2023

37596007 (PubMed )
Supplement: mmc1.pdf
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