Varaico: Literature-Extracted Genetic Variants

Gene:RAB11A
Variant:p.K13N
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RAB11A

NM_004663.5:p.K13N

Associated Papers

A Novel Constitutively Active c.98G > C, p.(R33P) Variant in RAB11A Associated with Intellectual Disability Promotes Neuritogenesis and Affects Oligodendroglial Arborization.

Tsuneura Y et al.

Human Mutation, 2023

High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.

Hamdan FF et al.

American Journal of Human Genetics, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."