Varaico: Literature-Extracted Genetic Variants

Gene:LTBP2
Variant:p.P319Q
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LTBP2

NM_000428.3:p.P319Q

Associated Papers

Recurrent somatic mutations of FAT family cadherins induce an aggressive phenotype and poor prognosis in anaplastic large cell lymphoma.

Villa M et al.

British Journal of Cancer, 2024

39478125 (PubMed )
Supplement: 41416_2024_2881_MOESM1_ESM.pdf

Whole Exome Sequencing Reveals Novel Candidate Genes in Familial Forms of Glaucomatous Neurodegeneration.

Narta K et al.

Genes, 2023

36833422 (PubMed )
Supplement: genes-14-00495-s001.zip › Narta_et_al_Supplementary_Tables.xlsx › Table_S2_KnownGeneVariation

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

Chen X et al.

Molecular Vision, 2016

Panel-based genetic diagnostic testing for inherited eye diseases is highly accurate and reproducible, and more sensitive for variant detection, than exome sequencing.

Consugar MB et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2015

25412400 (PubMed )
Supplement: NIHMS639026-supplement-Supplementary_Material_-_Main_File.pdf

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."