Varaico: Literature-Extracted Genetic Variants

Gene:SLK
Variant:p.E472*
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SLK

NM_014720.4:p.E472*

Associated Papers

Adult genomic medicine: lessons from a multisite study of 2700 patients.

Bakur K et al.

Genome Medicine, 2025

41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM6_ESM.xlsx › Sheet1

SLK is mutated in individuals with a neurodevelopmental disorder.

Alabdi L et al.

Ebiomedicine, 2025

Arab founder variants: Contributions to clinical genomics and precision medicine.

AlAbdi L et al.

Med (new York, N.y.), 2025

Diagnostic implications of pitfalls in causal variant identification based on 4577 molecularly characterized families.

AlAbdi L et al.

Nature Communications, 2023

37644014 (PubMed )
Supplement: 41467_2023_40909_MOESM10_ESM.xlsx › Sheet1

Correction to: Expanding the genetic heterogeneity of intellectual disability.

Anazi S et al.

Human Genetics, 2018

Expanding the genetic heterogeneity of intellectual disability.

Anazi S et al.

Human Genetics, 2017

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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."