Publications:

Combined exome and transcriptome sequencing of non-muscle-invasive bladder cancer: associations between genomic changes, expression subtypes, and clinical outcomes.

Genome Medicine

Goel, Anshita A; Ward, Douglas G DG; Noyvert, Boris B; Yu, Minghao M; Gordon, Naheema S NS; Abbotts, Ben B; Colbourne, John K JK; Kissane, Stephen S; James, Nicholas D ND; Zeegers, Maurice P MP; Cheng, Kar Keung KK; Cazier, Jean-Baptiste JB; Whalley, Celina M CM; Beggs, Andrew D AD; Palles, Claire C; Arnold, Roland R; Bryan, Richard T RT

Publication Date: 2022-06-03

Variant appearance in text: COL4A5: 4147C>T; Pro1383Ser

PubMed Link: 35655252

Variant Present in the following documents:

• 13073_2022_1056_MOESM1_ESM.xlsx, sheet 3

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Alport retinopathy results from "severe" COL4A5 mutations and predicts early renal failure.

Clinical Journal Of The American Society Of Nephrology : Cjasn

Tan, Rachel R; Colville, Deb D; Wang, Yan Yan YY; Rigby, Lin L; Savige, Judy J

Publication Date: 2010-01

Variant appearance in text: COL4A5: 4147C>T

PubMed Link: 19965530

Variant Present in the following documents:

• Main text

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