Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.P35S
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AGXT

NM_000030.3:p.P35S

Associated Papers

Oligohydramnios or Anhydramnios and Ultrasonically Normal Renal Echotexture Secondary to Autosomal Recessive Renal Tubular Dysgenesis: An Important Consideration in the Prenatal Setting.

Banuelos R et al.

Fetal Diagnosis and Therapy, 2023

Independent mutational events are rare in the ATM gene: haplotype prescreening enhances mutation detection rate.

Mitui M et al.

Human Mutation, 2003

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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."