Publications:

The genetics of monogenic intestinal epithelial disorders.

Human Genetics

Babcock, Stephen J SJ; Flores-Marin, David D; Thiagarajah, Jay R JR

Publication Date: 2022-11-23

Variant appearance in text: TERT: Thr567Met

PubMed Link: 36422736

Variant Present in the following documents:

• Main text
• 439_2022_Article_2501.pdf

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Functional interaction between compound heterozygous TERT mutations causes severe telomere biology disorder.

Blood Advances

Niaz, Aram A; Truong, Jia J; Manoleras, Annabel A; Fox, Lucy C LC; Blombery, Piers P; Vasireddy, Raja S RS; Pickett, Hilda A HA; Curtin, Julie A JA; Barbaro, Pasquale M PM; Rodgers, Jonathan J; Roy, John J; Riley, Lisa G LG; Holien, Jessica K JK; Cohen, Scott B SB; Bryan, Tracy M TM

Publication Date: 2022-06-28

Variant appearance in text: TERT: Thr567Met

PubMed Link: 35477117

Variant Present in the following documents:

• advancesADV2022007029-suppl1.pdf

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Refinement of evolutionary medicine predictions based on clinical evidence for the manifestations of Mendelian diseases.

Scientific Reports

Šimčíková, Daniela D; Heneberg, Petr P

Publication Date: 2019-12-09

Variant appearance in text: TERT: 1700C>T; T567M

PubMed Link: 31819097

Variant Present in the following documents:

• 41598_2019_54976_MOESM2_ESM.xlsx, sheet 9

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A homozygous telomerase T-motif variant resulting in markedly reduced repeat addition processivity in siblings with Hoyeraal Hreidarsson syndrome.

Blood

Gramatges, Maria M MM; Qi, Xiaodong X; Sasa, Ghadir S GS; Chen, Julian J-L JJ; Bertuch, Alison A AA

Publication Date: 2013-05-02

Variant appearance in text: TERT: 1700C>T; T567M

PubMed Link: 23538340

Variant Present in the following documents:

• Main text

View BVdb publication page