Varaico: Literature-Extracted Genetic Variants

Gene:SLITRK2
Variant:p.L74S
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SLITRK2

NM_032539.5:p.L74S

Associated Papers

Loss-of-function variant in the LRR domain of SLITRK2 implicated in a neurodevelopmental disorder.

Afsar T et al.

Frontiers in Genetics, 2023

SLITRK2 variants associated with neurodevelopmental disorders impair excitatory synaptic function and cognition in mice.

El Chehadeh S et al.

Nature Communications, 2022

Constraint and conservation of paired-type homeodomains predicts the clinical outcome of missense variants of uncertain significance.

Thai MHN et al.

Human Mutation, 2020

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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."