Varaico: Literature-Extracted Genetic Variants

Gene:LTBP2
Variant:p.T1796_E1797insC
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LTBP2

NM_000428.3:p.T1796_E1797insC

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

LTBP2 null mutations in an autosomal recessive ocular syndrome with megalocornea, spherophakia, and secondary glaucoma.

Désir J et al.

European Journal of Human Genetics : Ejhg, 2010

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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."