Varaico: Literature-Extracted Genetic Variants

Gene:PTRHD1
Variant:p.Y71*
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PTRHD1

NM_001013663.2:p.Y71*

Associated Papers

Early-onset parkinsonism with intellectual disability in an Italian family associated with a PTRHD1 variant.

Pedullà G et al.

Parkinsonism & Related Disorders, 2026

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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."