Varaico: Literature-Extracted Genetic Variants

Gene:GLB1
Variant:p.G453R
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GLB1

NM_000404.4:p.G453R

Associated Papers

Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

Huang Q et al.

Human Genomics, 2024

39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3

A GM1 gangliosidosis mutant mouse model exhibits activated microglia and disturbed autophagy.

Liu S et al.

Experimental Biology and Medicine (maywood, N.j.), 2021

Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis.

Feng Y et al.

Metabolic Brain Disease, 2018

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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."