Varaico: Literature-Extracted Genetic Variants

Gene:RAB11B
Variant:p.V22M
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RAB11B

NM_004218.4:p.V22M

Associated Papers

A Phenotypic Paradigm for Cerebral Palsy Genetics.

Arterbery AS et al.

Medrxiv : the Preprint Server for Health Sciences, 2026

41646824 (PubMed )
Supplement: media-2.xlsx › Table_S3

Contribution of rare coding variants to microcephaly in individuals with neurodevelopmental disorders.

Yoon JG et al.

Genome Medicine, 2025

40770811 (PubMed )
Supplement: 13073_2025_1513_MOESM2_ESM.xlsx › ST2

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

Ahmad N et al.

Pediatric Neurology, 2023

The Korean undiagnosed diseases program: lessons from a one-year pilot project.

Kim SY et al.

Orphanet Journal of Rare Diseases, 2019

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."