USH2A c.12152_12153insTT ;(p.E4051Dfs*2)

Variant ID: 1-215853632-T-TAA

NM_206933.2(USH2A):c.12152_12153insTT;(p.E4051Dfs*2)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


High Diagnostic Yield of Whole Exome Sequencing in Participants With Retinal Dystrophies in a Clinical Ophthalmology Setting.

American Journal Of Ophthalmology
Lee, Kristy K; Berg, Jonathan S JS; Milko, Laura L; Crooks, Kristy K; Lu, Mei M; Bizon, Chris C; Owen, Phillips P; Wilhelmsen, Kirk C KC; Weck, Karen E KE; Evans, James P JP; Garg, Seema S
Publication Date: 2015-08

Variant appearance in text: USH2A: 12152_12153insTT; Glu4051fs
PubMed Link: 25910913
Variant Present in the following documents:
  • Main text
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