GAA c.1843_1844delinsCA ;(p.G615Q)

Variant ID: 17-78086465-GG-CA

NM_000152.3(GAA):c.1843_1844delinsCA;(p.G615Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Kishnani, Priya S PS; Gibson, James B JB; Gambello, Michael J MJ; Hillman, Richard R; Stockton, David W DW; Kronn, David D; Leslie, Nancy D ND; Pena, Loren D M LDM; Tanpaiboon, Pranoot P; Day, John W JW; Wang, Raymond Y RY; Goldstein, Jennifer L JL; An Haack, Kristina K; Sparks, Susan E SE; Zhao, Yang Y; Hahn, Si Houn SH; ,
Publication Date: 2019-11

Variant appearance in text: GAA: G615Q
PubMed Link: 31086307
Variant Present in the following documents:
  • Main text
  • 41436_2019_Article_527.pdf
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