Varaico: Literature-Extracted Genetic Variants

Gene:AGXT
Variant:p.M230I
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AGXT

NM_000030.3:p.M230I

Associated Papers

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

Nagara M et al.

Gene, 2013

Primary hyperoxaluria type I: a model for multiple mutations in a monogenic disease within a distinct ethnic group.

Rinat C et al.

Journal of the American Society of Nephrology : Jasn, 1999

Primary hyperoxaluria: genotype-phenotype correlation.

Pirulli D et al.

Journal of Nephrology, 0

Identification of new mutations in primary hyperoxaluria type 1 (PH1).

von Schnakenburg C et al.

Journal of Nephrology, 0

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