Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.L151fs
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AGXT

NM_000030.3:p.L151fs

Associated Papers

A novel nonsense variant of the AGXT identified in a Chinese family: special variant research in the Chinese reference genome.

Xu CB et al.

Bmc Nephrology, 2021

33691640 (PubMed )
Supplement: 12882_2021_2276_MOESM5_ESM.xlsx › Sheet1

Recurrent truncating mutations in alanine-glyoxylate aminotransferase gene in two South Indian families with primary hyperoxaluria type 1 causing later onset end-stage kidney disease.

Dutta AK et al.

Indian Journal of Nephrology, 0

Primary Hyperoxaluria Type 1 with Homozygosity for a Double-mutated AGXT Allele in a 2-year-old Child.

Krishnamurthy S et al.

Indian Journal of Nephrology, 0

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