Varaico: Literature-Extracted Genetic Variants

Gene:RAB11B
Variant:p.A68T
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RAB11B

NM_004218.4:p.A68T

Associated Papers

De Novo Variants in RAB11B Cause Various Degrees of Global Developmental Delay and Intellectual Disability in Children.

Ahmad N et al.

Pediatric Neurology, 2023

Genetic and phenotypic analysis of 101 patients with developmental delay or intellectual disability using whole-exome sequencing.

Hiraide T et al.

Clinical Genetics, 2021

Recurrent De Novo Mutations Disturbing the GTP/GDP Binding Pocket of RAB11B Cause Intellectual Disability and a Distinctive Brain Phenotype.

Lamers IJC 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."