Varaico: Literature-Extracted Genetic Variants

Gene:SORD
Variant:p.S47_D48insFs
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SORD

NM_003104.6:p.S47_D48insFs

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

Identification of a xanthinuria type I case with mutations of xanthine dehydrogenase in an Afghan child.

Nakamura M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2012

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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."