Varaico: Literature-Extracted Genetic Variants

Gene:MTPAP
Variant:p.K488N
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MTPAP

NM_018109.4:p.K488N

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

NGS in Hereditary Ataxia: When Rare Becomes Frequent.

Galatolo D et al.

International Journal of Molecular Sciences, 2021

34445196 (PubMed )
Supplement: ijms-22-08490-s001.zip › Table_S4_revised__2.8.21.xlsx › Sheet1
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