Varaico: Literature-Extracted Genetic Variants

Gene:PDHX
Variant:p.T212S
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PDHX

NM_003477.3:p.T212S

Associated Papers

A Gain-of-Function Variant in Dopamine D2 Receptor and Progressive Chorea and Dystonia Phenotype.

van der Weijden MCM et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2021

33200438 (PubMed )
Supplement: MDS-36-729-s002.docx
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