Varaico: Literature-Extracted Genetic Variants

Gene:GLRX5
Variant:p.Q66*
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GLRX5

NM_016417.3:p.Q66*

Associated Papers

Case report: Unveiling genetic and phenotypic variability in Nonketotic hyperglycinemia: an atypical early onset case associated with a novel GLRX5 variant.

Marin V et al.

Frontiers in Genetics, 2024

GLRX5-associated [Fe-S] cluster biogenesis disorder: further characterisation of the neurological phenotype and long-term outcome.

Sankaran BP et al.

Orphanet Journal of Rare Diseases, 2021

Case Report: A Variant Non-ketotic Hyperglycinemia With GLRX5 Mutations: Manifestation of Deficiency of Activities of the Respiratory Chain Enzymes.

Feng WX et al.

Frontiers in Genetics, 2021

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