Varaico: Literature-Extracted Genetic Variants

Gene:LIM2
Variant:p.R130C
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LIM2

NM_001161748.2:p.R130C

Associated Papers

Novel and known variants in GJA3 and LIM2 in congenital cataract families from North India.

Goyal S et al.

Bmc Genomics, 2024

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

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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."