Varaico: Literature-Extracted Genetic Variants

Gene:ATP13A2
Variant:p.G15insFs
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ATP13A2

NM_022089.4:p.G15insFs

Associated Papers

Molecular Characterization of a Novel Splicing Mutation underlying Mucopolysaccharidosis (MPS) type VI-Indirect Proof of Principle on Its Pathogenicity.

Coutinho MF et al.

Diagnostics (basel, Switzerland), 2020

31973102 (PubMed )
Supplement: diagnostics-10-00058-s001.pdf
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