Varaico: Literature-Extracted Genetic Variants

Gene:LTBP2
Variant:p.A138delFs
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LTBP2

NM_000428.3:p.A138delFs

Associated Papers

Identification and phenotypic analysis of novel LTBP2 mutations in a Chinese cohort with congenital ectopia lentis.

Liu L et al.

Molecular Vision, 2023

Novel mutations in LTBP2 identified in familial cases of primary congenital glaucoma.

Rauf B et al.

Molecular Vision, 2020

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

Chen X et al.

Molecular Vision, 2016

Identification of Novel Variants in LTBP2 and PXDN Using Whole-Exome Sequencing in Developmental and Congenital Glaucoma.

Micheal S et al.

Plos One, 2016

Clinical applications and implications of common and founder mutations in Indian subpopulations.

Ankala A et al.

Human Mutation, 2015

Congenital megalocornea with zonular weakness and childhood lens-related secondary glaucoma - a distinct phenotype caused by recessive LTBP2 mutations.

Khan AO et al.

Molecular Vision, 2011

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

Abu-Amero KK et al.

Molecular Vision, 2011

Null mutations in LTBP2 cause primary congenital glaucoma.

Ali M et al.

American Journal of Human 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."