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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GBA1

Variant:p.P426_E427insFs

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GBA1

NM_000157.4:p.P426_E427insFs

hg38:chr1:155235791 G>GGATA

Associated Papers

TFEB regulates lysosomal proteostasis.

Song W et al.

Human Molecular Genetics, 2013

23393155 (PubMed )

Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis.

Altarescu G et al.

Molecular Biology International, 2012

23320174 (PubMed )

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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."