Publications:

Multisystemic Manifestations in Rare Diseases: The Experience of Dyskeratosis Congenita.

Genes

Callea, Michele M; Martinelli, Diego D; Cammarata-Scalisi, Francisco F; Grimaldi, Chiara C; Jilani, Houweyda H; Grimaldi, Piercesare P; Willoughby, Colin Eric CE; Morabito, Antonino A

Publication Date: 2022-03-11

Variant appearance in text: TERT: Ser121Gly

PubMed Link: 35328050

Variant Present in the following documents:

• genes-13-00496.pdf

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Dyskeratosis congenita and the DNA damage response.

British Journal Of Haematology

Kirwan, Michael M; Beswick, Richard R; Walne, Amanda J AJ; Hossain, Upal U; Casimir, Colin C; Vulliamy, Tom T; Dokal, Inderjeet I

Publication Date: 2011-06

Variant appearance in text: TERT: 361A>G; Ser121Gly

PubMed Link: 21477209

Variant Present in the following documents:

• Main text
• bjh0153-0634.pdf

View BVdb publication page