Varaico: Literature-Extracted Genetic Variants

Gene:LTBP2
Variant:p.S518I
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LTBP2

NM_000428.3:p.S518I

Associated Papers

Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.

Teerlink CC et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022

34151536 (PubMed )
Supplement: ALZ-18-307-s002.xlsx › Biological_Context_Filter

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

Chen X et al.

Molecular Vision, 2016

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

Lim SH et al.

American Journal of Ophthalmology, 2013

Contribution of the latent transforming growth factor-β binding protein 2 gene to etiology of primary open angle glaucoma and pseudoexfoliation syndrome.

Jelodari-Mamaghani S et al.

Molecular Vision, 2013

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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."