Varaico: Literature-Extracted Genetic Variants

Gene:SIX6
Variant:p.L37P
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SIX6

NM_007374.3:p.L37P

Associated Papers

Novel SIX6 mutations cause recessively inherited congenital cataract, microcornea, and corneal opacification with or without coloboma and microphthalmia.

Panagiotou ES et al.

Molecular Vision, 2022

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

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

A homozygous SIX6 mutation is associated with optic disc anomalies and macular atrophy and reduces retinal ganglion cell differentiation.

Yariz KO et al.

Clinical Genetics, 2015

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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."