Varaico: Literature-Extracted Genetic Variants

Gene:DOCK6
Variant:p.R429fs
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DOCK6

NM_020812.4:p.R429fs

Associated Papers

Adams-Oliver Syndrome: A Comprehensive Literature Review of Clinical, Nutritional, Genetic, and Molecular Aspects with Nursing Care Considerations.

Badiu Tișa I et al.

International Journal of Molecular Sciences, 2025

Novel compound heterozygous DOCK6 variants expand the mutational spectrum in prenatal diagnosis of Adams-Oliver syndrome 2.

Zhong X et al.

Bmc Medical Genomics, 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_MOESM25_ESM.xlsx › Sheet1

A novel variant in DOCK6 gene associated with Adams-Oliver syndrome type 2.

Alzahem T et al.

Ophthalmic Genetics, 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."