Varaico: Literature-Extracted Genetic Variants

Gene:NECAB3
Variant:p.R118C
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NECAB3

NM_031232.4:p.R118C

Associated Papers

Isolated Paroxysmal Non-kinesigenic Dystonia Associated with Homozygous PDHB Variant in an Indian Family.

Agarwal PA et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

35838632 (PubMed )
Supplement: supplement_1.docx
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