Varaico: Literature-Extracted Genetic Variants

Gene:RAD51
Variant:p.P286fs
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RAD51

NM_002875.5:p.P286fs

Associated Papers

Congenital mirror movements are associated with defective polymerisation of RAD51.

Trouillard O et al.

Journal of Medical Genetics, 2023

Noncanonical Roles of RAD51.

Thomas M et al.

Cells, 2023

Congenital Mirror Movements Due to RAD51: Cosegregation with a Nonsense Mutation in a Norwegian Pedigree and Review of the Literature.

Trouillard O et al.

Tremor and Other Hyperkinetic Movements (new York, N.y.), 2016

RAD51 haploinsufficiency causes congenital mirror movements in humans.

Depienne C et al.

American Journal of Human Genetics, 2012

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