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Article

Reevaluating the pathogenicity of the variations c.439 G>A and c.2132 C>T in the PLA2G6 gene.

Journal of genetics - 1 Jan 2020

Allouche Stephane

Abstract excerpt

The phospholipase A2 group VI (PLA2G6) gene encodes for a Ca2+-independent PLA2, which is localized in the cytosol, in the endoplasmic reticulum and in the mitochondrial membrane, plays a major role in phospholipid remodelling. Mutations within this gene have been reported to cause different phenotypes: infantile-onset neuroaxonal dystrophy associated with brain iron accumulation and adult-onset parkinsonian...

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PMID: 33361639

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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