HALA ABUBAKER BAGABIR; ANGHAM ABDULRHMAN ABDULKAREEM; OSAMA YOUSEF MUTHAFFAR; BADER H. SHIRAH; NASEER, Muhammad Imran. Clinical whole Exome Sequencing Reveals Novel Homozygous Missense Variant in the PMPCA Gene causing Autosomal Recessive Spinocerebellar Ataxia. Pakistan Journal of Medical Sciences, [S. l.], v. 40, n. 10, p. 2243–2250, 2024. DOI: 10.12669/pjms.40.10.10474. Disponível em: https://pjms.org.pk/index.php/pjms/article/view/10474. Acesso em: 18 apr. 2026.