Varaico: Literature-Extracted Genetic Variants

Gene:SETD5
Variant:p.L656*
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SETD5

NM_001080517.3:p.L656*

Associated Papers

De novo variants underlying monogenic syndromes with intellectual disability in a neurodevelopmental cohort from India.

Pande S et al.

European Journal of Human Genetics : Ejhg, 2024

Evaluation of the feasibility, diagnostic yield, and clinical utility of rapid genome sequencing in infantile epilepsy (Gene-STEPS): an international, multicentre, pilot cohort study.

D'Gama AM et al.

The Lancet. Neurology, 2023

Neurobehavioral characteristics of mice with SETD5 mutations as models of IDD23 and KBG syndromes.

Nakagawa T et al.

Frontiers in Genetics, 2022

36685966 (PubMed )
Supplement: Image1.PDF

Genetic variations on SETD5 underlying autistic conditions.

Fernandes IR et al.

Developmental Neurobiology, 2018

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