GAA c.965T>A ;(p.L322Q)

Variant ID: 17-78082098-T-A

NM_000152.3(GAA):c.965T>A;(p.L322Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


The New York pilot newborn screening program for lysosomal storage diseases: Report of the First 65,000 Infants.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics
Wasserstein, Melissa P MP; Caggana, Michele M; Bailey, Sean M SM; Desnick, Robert J RJ; Edelmann, Lisa L; Estrella, Lissette L; Holzman, Ian I; Kelly, Nicole R NR; Kornreich, Ruth R; Kupchik, S Gabriel SG; Martin, Monica M; Nafday, Suhas M SM; Wasserman, Randi R; Yang, Amy A; Yu, Chunli C; Orsini, Joseph J JJ
Publication Date: 2019-03

Variant appearance in text: GAA: 965T>A
PubMed Link: 30093709
Variant Present in the following documents:
  • Main text
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