Publications:

The genetic etiology of hearing loss in Japan revealed by the social health insurance-based genetic testing of 10K patients.

Human Genetics

Usami, Shin-Ichi SI; Nishio, Shin-Ya SY

Publication Date: 2022-04

Variant appearance in text: USH2A: 12294+1G>A

PubMed Link: 34599366

Variant Present in the following documents:

• 439_2021_2371_MOESM2_ESM.xlsx, sheet 1

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Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.

Scientific Reports

Jauregui, Ruben R; Chan, Lawrence L; Oh, Jin Kyun JK; Cho, Ahra A; Sparrow, Janet R JR; Tsang, Stephen H SH

Publication Date: 2020-02-25

Variant appearance in text: USH2A: 12294+1G>A

PubMed Link: 32098976

Variant Present in the following documents:

• 41598_2020_60137_MOESM1_ESM.pdf

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Unravelling the genetic basis of simplex Retinitis Pigmentosa cases.

Scientific Reports

Bravo-Gil, Nereida N; González-Del Pozo, María M; Martín-Sánchez, Marta M; Méndez-Vidal, Cristina C; Rodríguez-de la Rúa, Enrique E; Borrego, Salud S; Antiñolo, Guillermo G

Publication Date: 2017-02-03

Variant appearance in text: USH2A: 12294+1G>A

PubMed Link: 28157192

Variant Present in the following documents:

• Main text

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