Varaico: Literature-Extracted Genetic Variants

Gene:ASTN1
Variant:p.G742R
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ASTN1

NM_004319.3:p.G742R

Associated Papers

Bi-allelic variants in neuronal adhesion molecule astrotactin 1 gene ASTN1 cause diverse neurodevelopmental disorders.

Levine JM et al.

American Journal of Human Genetics, 2026

Comprehensive genomic analysis of patients with disorders of cerebral cortical development.

Wiszniewski W et al.

European Journal of Human Genetics : Ejhg, 2018

Genes that Affect Brain Structure and Function Identified by Rare Variant Analyses of Mendelian Neurologic Disease.

Karaca E et al.

Neuron, 2015

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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."