Varaico: Literature-Extracted Genetic Variants

Gene:LTBP2
Variant:p.W807*
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LTBP2

NM_000428.3:p.W807*

Associated Papers

A novel LTBP2 gene variant in a Turkish family with juvenile-onset open-angle glaucoma.

Bozkurt B et al.

Ophthalmic Genetics, 2024

38557215 (PubMed )
Supplement: supplement_1.pdf

Updates on the molecular genetics of primary congenital glaucoma (Review).

Ling C et al.

Experimental and Therapeutic Medicine, 2020

Comprehensive germline genomic profiles of children, adolescents and young adults with solid tumors.

Akhavanfard S et al.

Nature Communications, 2020

32371905 (PubMed )
Supplement: 41467_2020_16067_MOESM12_ESM.xlsx › Supplementary_Data_9

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

Rauf B et al.

Molecular Vision, 2020

Candidate Gene Analysis Identifies Mutations in CYP1B1 and LTBP2 in Indian Families with Primary Congenital Glaucoma.

Yang Y et al.

Genetic Testing and Molecular Biomarkers, 2017

Diagnostic accuracy of next generation sequencing-based genetic research for primary glaucoma: A systematic review and meta-analysis.

Liu Y et al.

Survey of Ophthalmology, 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."