Varaico: Literature-Extracted Genetic Variants

Gene:LTBP2
Variant:p.A119S
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LTBP2

NM_000428.3:p.A119S

Associated Papers

Mutational analysis of the CYP1B1 gene in Pakistani primary congenital glaucoma patients: Identification of four known and a novel causative variant at the 3' splice acceptor site of intron 2.

Afzal R et al.

Congenital Anomalies, 2019

CYP1B1, MYOC, and LTBP2 mutations in primary congenital glaucoma patients in the United States.

Lim SH et al.

American Journal of Ophthalmology, 2013

CYP1B1 analysis of unilateral primary newborn glaucoma in Saudi children.

Khan AO et al.

Journal of Aapos : the Official Publication of the American Association for Pediatric Ophthalmology and Strabismus, 2012

Screening of CYP1B1 and LTBP2 genes in Saudi families with primary congenital glaucoma: genotype-phenotype correlation.

Abu-Amero KK et al.

Molecular Vision, 2011

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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."