Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.R48C
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TERT

NM_198253.3:p.R48C

Associated Papers

Exome sequencing of hepatocellular carcinomas identifies new mutational signatures and potential therapeutic targets.

Schulze K et al.

Nature Genetics, 2015

25822088 (PubMed )
Supplement: NIHMS62359-supplement-Table3.xlsx › SuppTable_3a_242_exomes

Massively parallel sequencing, aCGH, and RNA-Seq technologies provide a comprehensive molecular diagnosis of Fanconi anemia.

Chandrasekharappa SC et al.

Blood, 2013

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