SI c.1978A>T ;(p.R660*)

Variant ID: 3-164760873-T-A

NM_001041.3(SI):c.1978A>T;(p.R660*)

This variant was identified in 1 publication

View GRCh38 version.



Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP

Publications:

Gentamicin induces LAMB3 nonsense mutation readthrough and restores functional laminin 332 in junctional epidermolysis bullosa.

Proceedings Of The National Academy Of Sciences Of The United States Of America
Lincoln, Vadim V; Cogan, Jon J; Hou, Yingping Y; Hirsch, Michaela M; Hao, Michelle M; Alexeev, Vitali V; De Luca, Michele M; De Rosa, Laura L; Bauer, Johann W JW; Woodley, David T DT; Chen, Mei M
Publication Date: 2018-07-10

Variant appearance in text: SI: R660X
PubMed Link: 29946029
Variant Present in the following documents:
  • Main text
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