Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.G170A
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AGXT

NM_000030.3:p.G170A

Associated Papers

Is withdrawal of nocturnal hyperhydration possible in children with primary hyperoxaluria treated with RNAi?

Biebuyck N et al.

Journal of Nephrology, 2023

[Inherited kidney stones: A nephrology center experience].

Kaaroud H et al.

Progres En Urologie : Journal De L'association Francaise D'urologie Et De La Societe Francaise D'urologie, 2019

Insight into the specificity and severity of pathogenic mechanisms associated with missense mutations through experimental and structural perturbation analyses.

Medina-Carmona E et al.

Human Molecular Genetics, 2019

AGXT Gene Mutations and Prevalence of Primary Hyperoxaluria Type 1 in Moroccan Population.

Boualla L et al.

Genetic Testing and Molecular Biomarkers, 2015

Mutation spectrum of primary hyperoxaluria type 1 in Tunisia: implication for diagnosis in North Africa.

Nagara M et al.

Gene, 2013

[Inherited monogenic kidney stone diseases: recent diagnostic and therapeutic advances].

Jungers P et al.

Nephrologie & Therapeutique, 2008

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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."