Publications:

NanoLuc reporters identify COL4A5 nonsense mutations susceptible to drug-induced stop codon readthrough.

Iscience

Omachi, Kohei K; Kai, Hirofumi H; Roberge, Michel M; Miner, Jeffrey H JH

Publication Date: 2022-03-18

Variant appearance in text: COL4A5: L755X

PubMed Link: 35243249

Variant Present in the following documents:

• Main text
• main.pdf
• mmc1.pdf

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Improving mutation screening in familial hematuric nephropathies through next generation sequencing.

Journal Of The American Society Of Nephrology : Jasn

Morinière, Vincent V; Dahan, Karin K; Hilbert, Pascale P; Lison, Marieline M; Lebbah, Said S; Topa, Alexandra A; Bole-Feysot, Christine C; Pruvost, Solenn S; Nitschke, Patrick P; Plaisier, Emmanuelle E; Knebelmann, Bertrand B; Macher, Marie-Alice MA; Noel, Laure-Hélène LH; Gubler, Marie-Claire MC; Antignac, Corinne C; Heidet, Laurence L

Publication Date: 2014-12

Variant appearance in text: COL4A5: Leu755*

PubMed Link: 24854265

Variant Present in the following documents:

• Main text

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