Varaico: Literature-Extracted Genetic Variants

Gene:ALG10B
Variant:p.L253W
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ALG10B

NM_001013620.4:p.L253W

Associated Papers

A conserved role for ALG10/ALG10B and the N -glycosylation pathway in the sleep-epilepsy axis.

Gill S et al.

Medrxiv : the Preprint Server for Health Sciences, 2024

An explainable model of host genetic interactions linked to COVID-19 severity.

Onoja A et al.

Communications Biology, 2022

36289370 (PubMed )
Supplement: 42003_2022_4073_MOESM4_ESM.xlsx › S12

Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.

D'Agostino Y et al.

Diagnostics (basel, Switzerland), 2022

36292100 (PubMed )
Supplement: diagnostics-12-02411-s001.zip › Supplementary_table_S3.xlsx › Foglio1

Genetic predisposition to fetal alcohol syndrome: association with congenital disorders of N-glycosylation.

de la Morena-Barrio ME et al.

Pediatric Research, 2018

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S13
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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."