Varaico: Literature-Extracted Genetic Variants

Gene:GOT1
Variant:p.Q208E
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GOT1

NM_002079.3:p.Q208E

Associated Papers

A heterozygous mutation in GOT1 is associated with familial macro-aspartate aminotransferase.

Kulecka M et al.

Journal of Hepatology, 2017

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-A7-A0CG-01A.domain
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