Varaico: Literature-Extracted Genetic Variants

Gene:NT5E
Variant:p.L131P
Back to variants list

NT5E

NM_002526.4:p.L131P

Associated Papers

Two new mutations of the P5'N-1 gene found in Italian patients with hereditary hemolytic anemia: the molecular basis of the red cell enzyme disorder.

Chiarelli LR et al.

Haematologica, 2006

Hereditary pyrimidine 5'-nucleotidase deficiency: from genetics to clinical manifestations.

Zanella A et al.

British Journal of Haematology, 2006

Hereditary erythrocyte pyrimidine 5'-nucleotidase deficiency: a biochemical, genetic and clinical overview.

Chiarelli LR et al.

Hematology (amsterdam, Netherlands), 2006

Functional analysis of pyrimidine 5'-nucleotidase mutants causing nonspherocytic hemolytic anemia.

Chiarelli LR et al.

Blood, 2005

Molecular basis of pyrimidine 5'-nucleotidase deficiency caused by 3 newly identified missense mutations (c.187T>C, c.469G>C and c.740T>C) and a tabulation of known mutations.

Chiarelli LR et al.

Blood Cells, Molecules & Diseases, 0

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."