Varaico: Literature-Extracted Genetic Variants

Gene:PLEKHG2
Variant:p.Y1285C
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PLEKHG2

NM_022835.3:p.Y1285C

Associated Papers

Novel MAG Variant Causes Cerebellar Ataxia with Oculomotor Apraxia: Molecular Basis and Expanded Clinical Phenotype.

Santos M et al.

Journal of Clinical Medicine, 2020

32340215 (PubMed )
Supplement: jcm-09-01212-s001.pdf
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