Varaico: Literature-Extracted Genetic Variants

Gene:SERPINA1
Variant:p.W218*
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SERPINA1

NM_000295.5:p.W218*

Associated Papers

Inherited rare variants in homologous recombination and neurodevelopmental genes are associated with increased risk of neuroblastoma.

Bonfiglio F et al.

Ebiomedicine, 2023

36493725 (PubMed )
Supplement: mmc1.xlsx › Table_S8

Transaldolase haploinsufficiency in subjects with acetaminophen-induced liver failure.

Oaks Z et al.

Journal of Inherited Metabolic Disease, 2020

A functional SNP upstream of the ADRB2 gene is associated with COPD.

Li JX et al.

International Journal of Chronic Obstructive Pulmonary Disease, 2018

Association analysis of the tryptophan hydroxylase 2 gene polymorphisms in patients with methamphetamine dependence/psychosis.

Kobayashi H et al.

Current Neuropharmacology, 2011

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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."