Varaico: Literature-Extracted Genetic Variants

Gene:NT5C3A
Variant:p.R56G
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NT5C3A

NM_001002010.5:p.R56G

Associated Papers

A New Homozygous Mutation (c.393-394del TA/c.393-394del TA) in the NT5C3 Gene Associated With Pyrimidine-5'-Nucleotidase Deficiency: A Case Report.

Köker SA et al.

Journal of Pediatric Hematology/oncology, 2019

Pyrimidine-5'-nucleotidase Campinas, a new mutation (p.R56G) in the NT5C3 gene associated with pyrimidine-5'-nucleotidase type I deficiency and influence of Gilbert's Syndrome on clinical expression.

Santos Ad et al.

Blood Cells, Molecules & Diseases, 2014

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