Article

Association of a Novel Pathogenic Variant (p.Ile366Asn) in the PLA2G6 Gene with Infantile Neuroaxonal Dystrophy

2024-12-19

Abstract excerpt

A couple presented to the office with an apparently healthy infant for a thorough clinical assessment, as they had previously lost two male children to a neurodegenerative disorder. They also reported the death of a male cousin abroad with the comparable condition. We aimed to evaluate a novel coding pathogenic variant c.1097 T>A, PLA2G6, within the affected family, previously identified in a deceased cousin, b...

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Literature Corpus work: 3840a93a-90ef-5ae9-8ea0-5bc76b63d1a2
DOI: 10.20944/preprints202412.1669.v1

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Association of a Novel Pathogenic Variant (p.Ile366Asn) in the PLA2G6 Gene with Infantile Neuroaxonal DystrophyDOI 10.20944/preprints202412.1669.v1Read

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