Varaico: Literature-Extracted Genetic Variants

Gene:EXOSC8
Variant:p.D143N
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EXOSC8

NM_181503.3:p.D143N

Associated Papers

Spastic Paraplegia Type 78 Associated With ATP13A2 Gene Variants in Compound Heterozygosity.

Ramírez RB et al.

Molecular Genetics & Genomic Medicine, 2025

39935284 (PubMed )
Supplement: MGG3-13-e70073-s001.pdf
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