Varaico: Literature-Extracted Genetic Variants

Gene:LIM2
Variant:p.F105V
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LIM2

NM_001161748.2:p.F105V

Associated Papers

A recurrent variant in LIM2 causes an isolated congenital sutural/lamellar cataract in a Japanese family.

Berry V et al.

Ophthalmic Genetics, 2022

Elongated axial length and myopia-related fundus changes associated with the Arg130Cys mutation in the LIM2 gene in four Chinese families with congenital cataracts.

Wang X et al.

Annals of Translational Medicine, 2021

A novel missense mutation in LIM2 causing isolated autosomal dominant congenital cataract.

Berry V et al.

Ophthalmic Genetics, 2020

A novel mutation of LIM2 causes autosomal dominant membranous cataract in a Chinese family.

Pei R et al.

International Journal of Ophthalmology, 2020

Further analysis of the lens phenotype in Lim2-deficient mice.

Shi Y et al.

Investigative Ophthalmology & Visual Science, 2011

Microphakia and congenital cataract formation in a novel Lim2(C51R) mutant mouse.

Puk O et al.

Molecular Vision, 2011

PhenoHM: human-mouse comparative phenome-genome server.

Sardana D et al.

Nucleic Acids Research, 2010

A missense mutation in LIM2 causes autosomal recessive congenital cataract.

Ponnam SP et al.

Molecular Vision, 2008

A missense mutation in the LIM2 gene is associated with autosomal recessive presenile cataract in an inbred Iraqi Jewish family.

Pras E et al.

American Journal of Human Genetics, 2002

Molecular characteristics of inherited congenital cataracts.

Huang B et al.

European Journal of Medical Genetics, 0

Congenital cataract: a guide to genetic and clinical management.

Bell SJ et al.

Therapeutic Advances in Rare Disease, 0

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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."