Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.R25_N26Splc
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GLB1

NM_000404.4:p.R25_N26Splc

Associated Papers

GM1 Gangliosidosis Type II: Results of a 10-Year Prospective Study.

D'Souza P et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

38313286 (PubMed )
Supplement: media-1.xlsx › Table_S1

Mutations in the promoter region of the aldolase B gene that cause hereditary fructose intolerance.

Coffee EM et al.

Journal of Inherited Metabolic Disease, 2010

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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."