Publications:

Targeted exome sequencing identified a novel USH2A mutation in a Chinese usher syndrome family: a case report.

Bmc Ophthalmology

Xing, Dongjun D; Zhou, Huaiyu H; Yu, Rongguo R; Wang, Linni L; Hu, Liying L; Li, Zhiqing Z; Li, Xiaorong X

Publication Date: 2020-12-10

Variant appearance in text: rs1635532

PubMed Link: 33302902

Variant Present in the following documents:

• 12886_2020_1711_MOESM1_ESM.xlsx, sheet 1

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Common variants in the COL2A1 gene are associated with lattice degeneration of the retina in a Japanese population.

Molecular Vision

Okazaki, Shinya S; Meguro, Akira A; Ideta, Ryuichi R; Takeuchi, Masaki M; Yonemoto, Junichi J; Teshigawara, Takeshi T; Yamane, Takahiro T; Okada, Eiichi E; Ideta, Hidenao H; Mizuki, Nobuhisa N

Publication Date: 2019

Variant appearance in text: rs1635532

PubMed Link: 31908402

Variant Present in the following documents:

• Main text

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Insights into the genetic basis of retinal detachment.

Human Molecular Genetics

Boutin, Thibaud S TS; Charteris, David G DG; Chandra, Aman A; Campbell, Susan S; Hayward, Caroline C; Campbell, Archie A; , ; Nandakumar, Priyanka P; Hinds, David D; , ; Mitry, Danny D; Vitart, Veronique V

Publication Date: 2020-03-13

Variant appearance in text: rs1635532

PubMed Link: 31816047

Variant Present in the following documents:

• Main text
• ddz294.pdf

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