Varaico: Literature-Extracted Genetic Variants

Gene:SLITRK2
Variant:p.V511M
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SLITRK2

NM_032539.5:p.V511M

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

Mutations disrupting neuritogenesis genes confer risk for cerebral palsy.

Jin SC et al.

Nature Genetics, 2020

32989326 (PubMed )
Supplement: 41588_2020_695_MOESM3_ESM.xlsx › Data_set_1
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