Varaico: Literature-Extracted Genetic Variants

Gene:LTBP2
Variant:p.R1603H
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LTBP2

NM_000428.3:p.R1603H

Associated Papers

Screening of the LTBP2 gene in 214 Chinese sporadic CYP1B1-negative patients with primary congenital glaucoma.

Chen X et al.

Molecular Vision, 2016

Screening of the LTBP2 gene in a north Indian population with primary congenital glaucoma.

Mohanty K et al.

Molecular Vision, 2013

Loss of function mutations in the gene encoding latent transforming growth factor beta binding protein 2, LTBP2, cause primary congenital glaucoma.

Narooie-Nejad M et al.

Human Molecular Genetics, 2009

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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."