Varaico: Literature-Extracted Genetic Variants

Gene:MOCOS
Variant:p.K346insFs
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MOCOS

NM_017947.4:p.K346insFs

Associated Papers

Classical Xanthinuria in Nine Israeli Families and Two Isolated Cases from Germany: Molecular, Biochemical and Population Genetics Aspects.

Peretz H et al.

Biomedicines, 2021

An ancestral variant causing type I xanthinuria in Turkmen and Arab families is predicted to prevail in the Afro-Asian stone-forming belt.

Peretz H et al.

Jimd Reports, 2020

Thiopurine-induced toxicity is associated with dysfunction variant of the human molybdenum cofactor sulfurase gene (xanthinuria type II).

Stiburkova B et al.

Toxicology and Applied Pharmacology, 2018

A frameshift mutation in MOCOS is associated with familial renal syndrome (xanthinuria) in Tyrolean Grey cattle.

Murgiano L et al.

Bmc Veterinary Research, 2016

Identification and characterization of the first mutation (Arg776Cys) in the C-terminal domain of the Human Molybdenum Cofactor Sulfurase (HMCS) associated with type II classical xanthinuria.

Peretz H et al.

Molecular Genetics and Metabolism, 2007

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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."