Varaico: Literature-Extracted Genetic Variants

Gene:TACSTD2
Variant:p.M1R
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TACSTD2

NM_002353.3:p.M1R

Associated Papers

Variant Landscape of 15 Genes Involved in Corneal Dystrophies: Report of 30 Families and Comprehensive Analysis of the Literature.

Zhu D et al.

International Journal of Molecular Sciences, 2023

36902444 (PubMed )
Supplement: ijms-24-05012-s001.zip › ijms-2152855-Supplementary_Table_S4_.xlsx › Sheet1

Spectrum of Clinical Signs and Genetic Characterization of Gelatinous Drop-Like Corneal Dystrophy in a Colombian Family.

Morantes S et al.

Cornea, 2016

Clinical and basic aspects of gelatinous drop-like corneal dystrophy.

Kawasaki S et al.

Developments in Ophthalmology, 2011

Identification and characterization of a novel TACSTD2 mutation in gelatinous drop-like corneal dystrophy.

Paliwal P et al.

Molecular Vision, 2010

A novel TACSTD2 mutation identified in two Chinese brothers with gelatinous drop-like corneal dystrophy.

Jing Y et al.

Molecular Vision, 2009

The IC3D classification of the corneal dystrophies.

Weiss JS et al.

Cornea, 2008

Four mutations (three novel, one founder) in TACSTD2 among Iranian GDLD patients.

Alavi A et al.

Investigative Ophthalmology & Visual Science, 2007

Gelatinous drop-like corneal dystrophy in a child with developmental delay: clinicopathological features and exclusion of the M1S1 gene.

Akhtar S et al.

Eye (london, England), 2005

Allelic and locus heterogeneity in autosomal recessive gelatinous drop-like corneal dystrophy.

Ren Z et al.

Human Genetics, 2002

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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."