Varaico: Literature-Extracted Genetic Variants

Gene:NUDT12
Variant:p.A386T
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NUDT12

NM_031438.4:p.A386T

Associated Papers

The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.

Tang X et al.

Nucleic Acids Research, 2014

25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A2-A0EM-01A.domain

Whole-exome sequencing, without prior linkage, identifies a mutation in LAMB3 as a cause of dominant hypoplastic amelogenesis imperfecta.

Poulter JA et al.

European Journal of Human Genetics : Ejhg, 2014

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