Publications:

Application of cell-free DNA for genomic tumor profiling: a feasibility study.

Oncotarget

Ahlborn, Lise B LB; Rohrberg, Kristoffer S KS; Gabrielaite, Migle M; Tuxen, Ida V IV; Yde, Christina W CW; Spanggaard, Iben I; Santoni-Rugiu, Eric E; Nielsen, Finn C FC; Lassen, Ulrik U; Mau-Sorensen, Morten M; Østrup, Olga O

Publication Date: 2019-02-15

Variant appearance in text: APC: 1939G>A

PubMed Link: 30858924

Variant Present in the following documents:

• oncotarget-10-1388-s002.xls, sheet 3

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A point mutation in the ion conduction pore of AMPA receptor GRIA3 causes dramatically perturbed sleep patterns as well as intellectual disability.

Human Molecular Genetics

Davies, Benjamin B; Brown, Laurence A LA; Cais, Ondrej O; Watson, Jake J; Clayton, Amber J AJ; Chang, Veronica T VT; Biggs, Daniel D; Preece, Christopher C; Hernandez-Pliego, Polinka P; Krohn, Jon J; Bhomra, Amarjit A; Twigg, Stephen R F SRF; Rimmer, Andrew A; Kanapin, Alexander A; , ; Sen, Arjune A; Zaiwalla, Zenobia Z; McVean, Gil G; Foster, Russell R; Donnelly, Peter P; Taylor, Jenny C JC; Blair, Edward E; Nutt, David D; Aricescu, A Radu AR; Greger, Ingo H IH; Peirson, Stuart N SN; Flint, Jonathan J; Martin, Hilary C HC

Publication Date: 2017-10-15

Variant appearance in text: APC: A647T

PubMed Link: 29016847

Variant Present in the following documents:

• Main text
• ddx270.pdf

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