Associated Papers
Clinical and molecular assessment of a spastic ataxia 4 (SPAX4) patient with a novel variant in the MTPAP gene, and a systematic review.
Ravanbod M et al.
Gene, 2025
Biallelic Mutations in MTPAP Associated with a Lethal Encephalopathy.
Van Eyck L et al.
Neuropediatrics, 2020
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