Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.S84_G85insG
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GBA1

NM_000157.4:p.S84_G85insG

Associated Papers

The Molecular Impact of Glucosylceramidase Beta 1 (Gba1) in Parkinson's Disease: a New Genetic State of the Art.

Dos Santos JCC et al.

Molecular Neurobiology, 2024

A French experience of type 3 Gaucher disease: Phenotypic diversity and neurological outcome of 10 patients.

Kraoua I et al.

Brain & Development, 2011

Clinical and genetic characteristics of Korean patients with Gaucher disease.

Jeong SY et al.

Blood Cells, Molecules & Diseases, 2011

Successful pregnancy and lactation outcome in a patient with Gaucher disease receiving enzyme replacement therapy, and the subsequent distribution and excretion of imiglucerase in human breast milk.

Sekijima Y et al.

Clinical Therapeutics, 2010

Gaucher disease in Colombia: mutation identification and comparison to other Hispanic populations.

Pomponio RJ et al.

Molecular Genetics and Metabolism, 2005

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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."