Home Downloads UCSC Genome Browser Track Email Updates

Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GBA1

Variant:p.Y79_T82delFs

Back to variants list

GBA1

NM_000157.4:p.Y79_T82delFs

hg38:chr1:155239946 GTGTACTCTCAT>G

Associated Papers

Newborn Screening for Pompe Disease.

Sawada T et al.

International Journal of Neonatal Screening, 2020

33073027 (PubMed )

Newborn screening for lysosomal storage disorders by tandem mass spectrometry in North East Italy.

Burlina AB et al.

Journal of Inherited Metabolic Disease, 2018

29143201 (PubMed )

Select a paper to view details

UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."