Varaico: Literature-Extracted Genetic Variants

Gene:LTBP2
Variant:p.G1088S
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LTBP2

NM_000428.3:p.G1088S

Associated Papers

Evaluation of whole exome sequencing by targeted gene sequencing and Sanger sequencing.

Chang YS et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2017

A homozygous mutation in LTBP2 causes isolated microspherophakia.

Kumar A et al.

Human Genetics, 2010

LTBP2 gene analysis in the GLC3C-linked family and 94 CYP1B1-negative cases with primary congenital glaucoma.

Sharafieh R et al.

Ophthalmic Genetics, 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."