Varaico: Literature-Extracted Genetic Variants

Gene:NT5C1A
Variant:p.R322H
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NT5C1A

NM_032526.3:p.R322H

Associated Papers

Early Colorectal Cancers Provide New Evidence for a Lynch Syndrome-to-CMMRD Phenotypic Continuum.

Fernandez-Rozadilla C et al.

Cancers, 2019

31366136 (PubMed )
Supplement: cancers-11-01081-s001.pdf

Benchmarking of Whole Exome Sequencing and Ad Hoc Designed Panels for Genetic Testing of Hereditary Cancer.

Feliubadaló L et al.

Scientific Reports, 2017

28050010 (PubMed )
Supplement: srep37984-s2.xls › Exome_geMODERATE_variants

Pharmacogenetic characterization of naturally occurring germline NT5C1A variants to chemotherapeutic nucleoside analogs.

Saliba J et al.

Pharmacogenetics and Genomics, 2016

Targeted exon capture and sequencing in sporadic amyotrophic lateral sclerosis.

Couthouis J et al.

Plos Genetics, 2014

25299611 (PubMed )
Supplement: pgen.1004704.s005.xlsx › Sheet1
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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."