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POT1 loss-of-function variants predispose to familial melanoma
Carla Daniela Robles-Espinoza
, Mark Harland
, Andrew J. Ramsay
, Lauren G. Aoude
, Victor Quesada
, Zhihao Ding
, Karen A. Pooley
,
Antonia L. Pritchard
, Jessamy C. Tiffen
, Mia Petljak
, Jane M. Palmer
, Judith Symmons
, Peter A. Johansson
, Mitchell S. Stark
, Michael G. Gartside
, Helen Snowden
, Grant W. Montgomery
, Nicholas G. Martin
, Jimmy Z. Lite
, Jiyeon Choi
Matthew Makowski, Kevin M. Brown, Alison M. Dunning, Thomas M. Keane, Carlos Lopez-Otin, Nelleke A. Gruis, Nicholas K. Hayward, D. Timothy Bishop, Julia A. Newton-Bishop, David J. Adams
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Division of Biomedical Sciences
Research output
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Contribution to journal
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Article
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peer-review
337
Citations (Scopus)
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Dive into the research topics of 'POT1 loss-of-function variants predispose to familial melanoma'. Together they form a unique fingerprint.
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Biochemistry, Genetics and Molecular Biology
Telomere
100%
Gene Loss
100%
Binding Domain
16%
Germline
16%
BAP1
16%
Oligonucleotide
16%
RNA Splicing
16%
Promoter Region
16%
Germ Cell
16%
Penetrance
16%
Cyclin Dependent Kinase Inhibitor 2A
16%
Oligosaccharide
16%
Pedigree
16%
Telomere Length
16%
Rare Variant
16%
BRCA2
16%
Telomere-Binding Protein
16%