Varaico: Literature-Extracted Genetic Variants

Gene:GBE1
Variant:p.G540Splc
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GBE1

NM_000158.4:p.G540Splc

Associated Papers

Diagnostic yield and psychological outcomes among women pursuing trio-exome sequencing: Do women with recurrent anomalous fetal phenotypes experience more negative psychological outcomes?

Talati AN et al.

Prenatal Diagnosis, 2023

GBE1-related disorders: Adult polyglucosan body disease and its neuromuscular phenotypes.

Souza PVS et al.

Journal of Inherited Metabolic Disease, 2021

An approach to integrating exome sequencing for fetal structural anomalies into clinical practice.

Vora NL et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

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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."