Varaico: Literature-Extracted Genetic Variants

Gene:GBA1
Variant:p.S463Splc
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GBA1

NM_000157.4:p.S463Splc

Associated Papers

Identification of novel splice site mutation IVS9 + 1(G > A) and novel complex allele G355R/R359X in Type 1 Gaucher patients heterozygous for mutation N370S.

Hoitsema K et al.

Meta Gene, 2016

Advances in GBA-associated Parkinson's disease--Pathology, presentation and therapies.

Barkhuizen M et al.

Neurochemistry International, 2016

Functional analysis of 11 novel GBA alleles.

Malini E et al.

European Journal of Human Genetics : Ejhg, 2014

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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."