Associated Papers
A Case Report of Primary Ovarian Failure in an Adolescent Associated With a Homozygous Pathogenic Variant in the Mitochondrial Poly-A-Polymerase Gene (MTPAP).
Epstein J et al.
Journal of Pediatric and Adolescent Gynecology, 2025
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
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