Varaico: Literature-Extracted Genetic Variants

Gene:PTPA
Variant:p.M298R
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PTPA

NM_178001.3:p.M298R

Associated Papers

Alternative start codon selection shapes mitochondrial function and rare human diseases.

Ly J et al.

Molecular Cell, 2025

41205602 (PubMed )
Supplement: NIHMS2117943-supplement-MMMC6.xlsx › SupplementalTableS5

Population-Specific Differences in Pathogenic Variants of Genes Associated with Monogenic Parkinson's Disease.

Flores-Ocampo V et al.

Genes, 2025

40282414 (PubMed )
Supplement: genes-16-00454-s001.zip › Supplementary_Tables.xlsx › ST2

Cross-Ethnic Variant Screening and Burden Analysis of PTPA in Parkinson's Disease.

Li C et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2023

PTPA variants and impaired PP2A activity in early-onset parkinsonism with intellectual disability.

Fevga C et al.

Brain : a Journal of Neurology, 2023

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."