Varaico: Literature-Extracted Genetic Variants

Gene:SLC52A2
Variant:p.A118D
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SLC52A2

NM_001363118.2:p.A118D

Associated Papers

Functional Characterization of Rare RAB12 Variants and Their Role in Musician's and Other Dystonias.

Hebert E et al.

Genes, 2017

29057844 (PubMed )
Supplement: genes-08-00276-s001.pdf

Brown-Vialetto-Van Laere Syndrome as a Mimic of Neuroimmune Disorders: 3 Cases From the Clinic and Review of the Literature.

Allison T et al.

Journal of Child Neurology, 2017

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