Varaico: Literature-Extracted Genetic Variants

Gene:VSX2
Variant:p.D291N
Back to variants list

VSX2

NM_182894.3:p.D291N

Associated Papers

Genetic analysis of axial length genes in high grade myopia from Indian population.

Sharmila F et al.

Meta Gene, 2014

Targeted 'next-generation' sequencing in anophthalmia and microphthalmia patients confirms SOX2, OTX2 and FOXE3 mutations.

Jimenez NL et al.

Bmc Medical Genetics, 2011

Use of genome-wide SNP homozygosity mapping in small pedigrees to identify new mutations in VSX2 causing recessive microphthalmia and a semidominant inner retinal dystrophy.

Iseri SU et al.

Human Genetics, 2010

Molecular analysis of CHX10 and MFRP in Chinese subjects with primary angle closure glaucoma and short axial length eyes.

Aung T et al.

Molecular Vision, 2008

Identification of novel mutations and sequence variants in the SOX2 and CHX10 genes in patients with anophthalmia/microphthalmia.

Zhou J et al.

Molecular Vision, 2008

Genetic analysis of SOX2 and VSX2 genes in 27 Egyptian families with anophthalmia and microphthalmia.

Ammar THA et al.

Ophthalmic Genetics, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."