Publications:

TAPES: A tool for assessment and prioritisation in exome studies.

Plos Computational Biology

Xavier, Alexandre A; Scott, Rodney J RJ; Talseth-Palmer, Bente A BA

Publication Date: 2019-10

Variant appearance in text: TERT: G260D; rs148798048

PubMed Link: 31613886

Variant Present in the following documents:

• pcbi.1007453.s004.xlsx, sheet 7
• pcbi.1007453.s002.xlsx, sheet 1
• pcbi.1007453.s004.xlsx, sheet 2
• pcbi.1007453.s004.xlsx, sheet 6

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The Spectrum of Hepatic Involvement in Patients With Telomere Disease.

Hepatology (Baltimore, Md.)

Kapuria, Devika D; Ben-Yakov, Gil G; Ortolano, Rebecca R; Cho, Min Ho MH; Kalchiem-Dekel, Or O; Takyar, Varun V; Lingala, Shilpa S; Gara, Naveen N; Tana, Michele M; Kim, Yun Ju YJ; Kleiner, David E DE; Young, Neal S NS; Townsley, Danielle M DM; Koh, Christopher C; Heller, Theo T

Publication Date: 2019-06

Variant appearance in text: TERT: 779G>A; Gly260Asp

PubMed Link: 30791107

Variant Present in the following documents:

• Main text

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Pathogenic TERT promoter variants in telomere diseases.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Gutierrez-Rodrigues, Fernanda F; Donaires, Flávia S FS; Pinto, André A; Vicente, Alana A; Dillon, Laura W LW; Clé, Diego V DV; Santana, Barbara A BA; Pirooznia, Mehdi M; Ibanez, Maria Del Pilar F MDPF; Townsley, Danielle M DM; Kajigaya, Sachiko S; Hourigan, Christopher S CS; Cooper, James N JN; Calado, Rodrigo T RT; Young, Neal S NS

Publication Date: 2019-07

Variant appearance in text: TERT: 779G>A; G260D

PubMed Link: 30523342

Variant Present in the following documents:

• 41436_2018_385_MOESM1_ESM.pdf

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Erosion of telomeric single-stranded overhang in patients with aplastic anaemia carrying telomerase complex mutations.

European Journal Of Clinical Investigation

Calado, R T RT; Regal, J A JA; Kajigaya, S S; Young, N S NS

Publication Date: 2009-11

Variant appearance in text: TERT: G260D

PubMed Link: 19674077

Variant Present in the following documents:

• Main text

View BVdb publication page