A rare inherited homozygous missense variant in PLA2G6 influences susceptibility to infantile neuroaxonal dystrophy: a case report.
Yongxue LyuTao WangMeifang LinFengfeng QiPublished in: Translational pediatrics (2024)
c.1778C>T homozygous variant contributes to the pathogenesis of INAD.
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