Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.M1insFs
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AGXT

NM_000030.3:p.M1insFs

Associated Papers

Global genetic prevalence estimates of primary hyperoxaluria are greater than previously reported.

Mandrile G et al.

Clinical Kidney Journal, 2025

40873808 (PubMed )
Supplement: sfaf194_Supplemental_File.docx

Genetic etiological spectrum of sperm morphological abnormalities.

Arora M et al.

Journal of Assisted Reproduction and Genetics, 2024

Copy number variations (CNVs) and karyotyping analysis in males with azoospermia and oligospermia.

Xin X et al.

Bmc Medical Genomics, 2023

Hereditary causes of kidney stones and chronic kidney disease.

Edvardsson VO et al.

Pediatric Nephrology (berlin, Germany), 2013

Phenotype and genotype characterization of adenine phosphoribosyltransferase deficiency.

Bollée G et al.

Journal of the American Society of Nephrology : Jasn, 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."