Publications:

Structural Features of Nucleoprotein CST/Shelterin Complex Involved in the Telomere Maintenance and Its Association with Disease Mutations.

Cells

Amir, Mohd M; Khan, Parvez P; Queen, Aarfa A; Dohare, Ravins R; Alajmi, Mohamed F MF; Hussain, Afzal A; Islam, Asimul A; Ahmad, Faizan F; Hassan, Imtaiyaz I

Publication Date: 2020-02-04

Variant appearance in text: RAP1: R133Q

PubMed Link: 32033110

Variant Present in the following documents:

• Main text
• cells-09-00359.pdf

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Multigene panel sequencing of established and candidate melanoma susceptibility genes in a large cohort of Dutch non-CDKN2A/CDK4 melanoma families.

International Journal Of Cancer

Potjer, Thomas P TP; Bollen, Sander S; Grimbergen, Anneliese J E M AJEM; van Doorn, Remco R; Gruis, Nelleke A NA; van Asperen, Christi J CJ; Hes, Frederik J FJ; van der Stoep, Nienke N; ,

Publication Date: 2019-05-15

Variant appearance in text: TERF2IP: 398G>A

PubMed Link: 30414346

Variant Present in the following documents:

• Main text
• IJC-144-2453.pdf

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Germ line mutations in shelterin complex genes are associated with familial chronic lymphocytic leukemia.

Blood

Speedy, Helen E HE; Kinnersley, Ben B; Chubb, Daniel D; Broderick, Peter P; Law, Philip J PJ; Litchfield, Kevin K; Jayne, Sandrine S; Dyer, Martin J S MJS; Dearden, Claire C; Follows, George A GA; Catovsky, Daniel D; Houlston, Richard S RS

Publication Date: 2016-11-10

Variant appearance in text: TERF2IP: 398G>A; Arg133Gln

PubMed Link: 27528712

Variant Present in the following documents:

• Main text

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