USH2A c.8442dup ;(p.T2815Yfs*20)

Variant ID: 1-216052221-T-TA

NM_206933.2(USH2A):c.8442dup;(p.T2815Yfs*20)

This variant was identified in 3 publications

View GRCh38 version.




Publications:


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: 8442_8443insT
PubMed Link: 32098976
Variant Present in the following documents:
  • 41598_2020_60137_MOESM1_ESM.pdf
View BVdb publication page



Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.

Scientific Reports
Sengillo, Jesse D JD; Cabral, Thiago T; Schuerch, Kaspar K; Duong, Jimmy J; Lee, Winston W; Boudreault, Katherine K; Xu, Yu Y; Justus, Sally S; Sparrow, Janet R JR; Mahajan, Vinit B VB; Tsang, Stephen H SH
Publication Date: 2017-09-11

Variant appearance in text: USH2A: 8442_8443insT
PubMed Link: 28894305
Variant Present in the following documents:
  • Main text
  • 41598_2017_11679_MOESM1_ESM.pdf
  • 41598_2017_Article_11679.pdf
View BVdb publication page



Multimodal Imaging of Central Retinal Disease Progression in a 2-Year Mean Follow-up of Retinitis Pigmentosa.

American Journal Of Ophthalmology
Sujirakul, Tharikarn T; Lin, Michael K MK; Duong, Jimmy J; Wei, Ying Y; Lopez-Pintado, Sara S; Tsang, Stephen H SH
Publication Date: 2015-10

Variant appearance in text: USH2A: 8442_8443insT
PubMed Link: 26164827
Variant Present in the following documents:
  • Main text
View BVdb publication page