Varaico: Literature-Extracted Genetic Variants

Gene:KIRREL3
Variant:p.R336Q
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KIRREL3

NM_032531.4:p.R336Q

Associated Papers

Evaluation of the synapse adhesion molecule Kirrel3 in neurological disease.

Shennib O et al.

Frontiers in Neurology, 2025

KIRREL3-related disorders: a case report confirming the radiological features and expanding the clinical spectrum to a less severe phenotype.

Querzani A et al.

Italian Journal of Pediatrics, 2023

A Missense De Novo Variant in the CASK-interactor KIRREL3 Gene Leading to Neurodevelopmental Disorder with Mild Cerebellar Hypoplasia.

Ciaccio C et al.

Neuropediatrics, 2021

Kirrel3-Mediated Synapse Formation Is Attenuated by Disease-Associated Missense Variants.

Taylor MR et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2020

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4b_-_Disease_Var

Variability of systemic and oro-dental phenotype in two families with non-lethal Raine syndrome with FAM20C mutations.

Acevedo AC et al.

Bmc Medical Genetics, 2015

Alterations in CDH15 and KIRREL3 in patients with mild to severe intellectual disability.

Bhalla K et al.

American Journal of Human Genetics, 2008

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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."