Publications:

Targeted broad-based genetic testing by next-generation sequencing informs diagnosis and facilitates management in patients with kidney diseases.

Nephrology, Dialysis, Transplantation : Official Publication Of The European Dialysis And Transplant Association - European Renal Association

Mansilla, M Adela MA; Sompallae, Ramakrishna R RR; Nishimura, Carla J CJ; Kwitek, Anne E AE; Kimble, Mycah J MJ; Freese, Margaret E ME; Campbell, Colleen A CA; Smith, Richard J RJ; Thomas, Christie P CP

Publication Date: 2021-01-25

Variant appearance in text: PKD1: 8597T>C; Leu2866Pro

PubMed Link: 31738409

Variant Present in the following documents:

• Main text
• gfz173.pdf

View BVdb publication page

A novel evolutionarily conserved domain of cell-adhesion GPCRs mediates autoproteolysis.

The Embo Journal

Araç, Demet D; Boucard, Antony A AA; Bolliger, Marc F MF; Nguyen, Jenna J; Soltis, S Michael SM; Südhof, Thomas C TC; Brunger, Axel T AT

Publication Date: 2012-03-21

Variant appearance in text: PKD1: L2866P

PubMed Link: 22333914

Variant Present in the following documents:

• emboj201226a.pdf
• emboj201226s1.pdf

View BVdb publication page