LOXL1 c.1103-6000G>A

Variant ID: 15-74229195-G-A

NM_005576.2(LOXL1):c.1103-6000G>A

This variant was identified in 7 publications

View GRCh38 version.




Publications:


Establishment and characterization of a new mantle cell lymphoma cell line with a NOTCH2 mutation, Arbo.

Ejhaem
Safa, Firas F; Rasmussen, Terri T; Lobelle-Rich, Patricia P; Collier, Stephanie S; Milligan, Nicholas N; Schmeig, John J; Schmid, Janet J; Wiewiorowski, Carol C; Totaro, Denise D; Brown, Theresa C TC; Satyavarapu, Ishwarya I; Badoo, Melody M; Ungerleider, Nathan N; Flemington, Erik K EK; Safah, Hana H; Saba, Nakhle S NS
Publication Date: 2022-11

Variant appearance in text: rs893818
PubMed Link: 36467812
Variant Present in the following documents:
  • JHA2-3-1326-s001.xlsx, sheet 1
View BVdb publication page



LOXL1 gene polymorphism candidates for exfoliation glaucoma are also associated with a risk for primary open-angle glaucoma in a Caucasian population from central Russia.

Molecular Vision
Eliseeva, Natalya N; Ponomarenko, Irina I; Reshetnikov, Evgeny E; Dvornyk, Volodymyr V; Churnosov, Mikhail M
Publication Date: 2021

Variant appearance in text: rs893818
PubMed Link: 34012228
Variant Present in the following documents:
  • Main text
View BVdb publication page



Molecular Genetics of Glaucoma: Subtype and Ethnicity Considerations.

Genes
Zukerman, Ryan R; Harris, Alon A; Vercellin, Alice Verticchio AV; Siesky, Brent B; Pasquale, Louis R LR; Ciulla, Thomas A TA
Publication Date: 2020-12-31

Variant appearance in text: rs893818
PubMed Link: 33396423
Variant Present in the following documents:
  • Main text
  • genes-12-00055.pdf
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Multiple Gene Polymorphisms Associated with Exfoliation Syndrome in the Uygur Population.

Journal Of Ophthalmology
Ma, Yi-Nu YN; Xie, Ting-Yu TY; Chen, Xue-Yi XY
Publication Date: 2019

Variant appearance in text: rs893818
PubMed Link: 31192002
Variant Present in the following documents:
  • Main text
  • JOPH2019-9687823.pdf
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Bayesian Network Construction and Genotype-Phenotype Inference Using GWAS Statistics.

Ieee/Acm Transactions On Computational Biology And Bioinformatics
Zhang, Lu L; Pan, Qiuping Q; Wang, Yue Y; Wu, Xintao X; Shi, Xinghua X
Publication Date: 2019

Variant appearance in text: rs893818
PubMed Link: 29990020
Variant Present in the following documents:
  • Main text
View BVdb publication page



Novel common variants and susceptible haplotype for exfoliation glaucoma specific to Asian population.

Scientific Reports
Nakano, Masakazu M; Ikeda, Yoko Y; Tokuda, Yuichi Y; Fuwa, Masahiro M; Ueno, Morio M; Imai, Kojiro K; Sato, Ryuichi R; Omi, Natsue N; Adachi, Hiroko H; Kageyama, Masaaki M; Mori, Kazuhiko K; Kinoshita, Shigeru S; Tashiro, Kei K
Publication Date: 2014-06-18

Variant appearance in text: rs893818
PubMed Link: 24938310
Variant Present in the following documents:
  • Main text
View BVdb publication page



Genome-wide association study with DNA pooling identifies variants at CNTNAP2 associated with pseudoexfoliation syndrome.

European Journal Of Human Genetics : Ejhg
Krumbiegel, Mandy M; Pasutto, Francesca F; Schlötzer-Schrehardt, Ursula U; Uebe, Steffen S; Zenkel, Matthias M; Mardin, Christian Y CY; Weisschuh, Nicole N; Paoli, Daniela D; Gramer, Eugen E; Becker, Christian C; Ekici, Arif B AB; Weber, Bernhard H F BH; Nürnberg, Peter P; Kruse, Friedrich E FE; Reis, André A
Publication Date: 2011-02

Variant appearance in text: rs893818
PubMed Link: 20808326
Variant Present in the following documents:
  • Main text
View BVdb publication page