Varaico: Literature-Extracted Genetic Variants

Gene:SIX6
Variant:p.T165A
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SIX6

NM_007374.3:p.T165A

Associated Papers

DNA binding analysis of rare variants in homeodomains reveals homeodomain specificity-determining residues.

Kock KH et al.

Nature Communications, 2024

SIX6-related anophthalmia/microphthalmia: second report on a deletion in a consanguineous family.

Deepthi A et al.

Ophthalmic Genetics, 2021

Genetics of anophthalmia and microphthalmia. Part 1: Non-syndromic anophthalmia/microphthalmia.

Plaisancié J et al.

Human Genetics, 2019

Association of Polymorphisms at the SIX1-SIX6 Locus With Primary Open-Angle Glaucoma.

Lu SY et al.

Investigative Ophthalmology & Visual Science, 2019

A SIX6 Nonsense Variant in Golden Retrievers with Congenital Eye Malformations.

Hug P et al.

Genes, 2019

Co-accumulation of cis-regulatory and coding mutations during the pseudogenization of the Xenopus laevis homoeologs six6.L and six6.S.

Ochi H et al.

Developmental Biology, 2017

Mutational screening of 10 genes in Chinese patients with microphthalmia and/or coloboma.

Zhang X et al.

Molecular Vision, 2009

Analysis of the developmental SIX6 homeobox gene in patients with anophthalmia/microphthalmia.

Gallardo ME et al.

American Journal of Medical Genetics. Part A, 2004

A Case of Bilateral Microphthalmia and Extensive Colobomas of the Globes Associated with a Likely Pathogenic Homozygous SIX6 Variant.

Javidi E et al.

Case Reports in Ophthalmology, 0

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