Varaico: Literature-Extracted Genetic Variants

Gene:COL18A1
Variant:p.N1172delFs
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COL18A1

NM_001379500.1:p.N1172delFs

Associated Papers

A family with Knobloch syndrome.

Fettinger N et al.

Ophthalmic Genetics, 2025

Genetic determinants of global developmental delay and intellectual disability in Ukrainian children.

Shchubelka K et al.

Journal of Neurodevelopmental Disorders, 2024

38539105 (PubMed )
Supplement: 11689_2024_9528_MOESM2_ESM.xlsx › Diagnosed

A Description of the Yield of Genetic Reinvestigation in Patients with Inherited Retinal Dystrophies and Previous Inconclusive Genetic Testing.

Areblom M et al.

Genes, 2023

Three cases of molecularly confirmed Knobloch syndrome.

Balikova I et al.

Ophthalmic Genetics, 2020

No evidence for locus heterogeneity in Knobloch syndrome.

Aldahmesh MA et al.

Journal of Medical Genetics, 2013

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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."