TERT c.2030G>A ;(p.G677D)

Variant ID: 5-1279506-C-T

NM_198253.2(TERT):c.2030G>A;(p.G677D)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical Correlates and Treatment Outcomes for Patients With Short Telomere Syndromes.

Mayo Clinic Proceedings
Mangaonkar, Abhishek A AA; Ferrer, Alejandro A; Pinto E Vairo, Filippo F; Cousin, Margot A MA; Kuisle, Ryan J RJ; Klee, Eric W EW; Kennedy, Cassie C CC; Peters, Steve G SG; Scott, J P JP; Utz, James P JP; Baqir, Misbah M; Sekiguchi, Hiroshi H; Khan, Shakila P SP; Rodriguez, Vilmarie V; Simonetto, Douglas A DA; Kamath, Patrick S PS; Abraham, Roshini S RS; Wylam, Mark E ME; Patnaik, Mrinal M MM
Publication Date: 2018-07

Variant appearance in text: TERT: 2030G>A; G677D
PubMed Link: 29976374
Variant Present in the following documents:
  • Main text
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