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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRKRA

Variant:p.T214N

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PRKRA

NM_003690.5:p.T214N

hg38:chr2:178436288 G>T

Associated Papers

Dystonia Linked to EIF4A2 Haploinsufficiency: A Disorder of Protein Translation Dysfunction.

Harrer P et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2023

37485550 (PubMed )

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