TERT c.110G>A ;(p.R37Q)

Variant ID: 5-1294995-C-T

NM_198253.2(TERT):c.110G>A;(p.R37Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Functional characterization of novel telomerase RNA (TERC) mutations in patients with diverse clinical and pathological presentations.

Haematologica
Marrone, Anna A; Sokhal, Priya P; Walne, Amanda A; Beswick, Richard R; Kirwan, Michael M; Killick, Sally S; Williams, Mike M; Marsh, Judith J; Vulliamy, Tom T; Dokal, Inderjeet I
Publication Date: 2007-08

Variant appearance in text:
PubMed Link: 17640862
Variant Present in the following documents:
  • Main text
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