Publications:

Applying next generation sequencing with microdroplet PCR to determine the disease-causing mutations in retinal dystrophies.

Bmc Ophthalmology

Wang, Xinjing X; Zein, Wadih M WM; D'Souza, Leera L; Roberson, Chimere C; Wetherby, Keith K; He, Hong H; Villarta, Angela A; Turriff, Amy A; Johnson, Kory R KR; Fann, Yang C YC

Publication Date: 2017-08-24

Variant appearance in text: TYR: 740G>T; C247F

PubMed Link: 28838317

Variant Present in the following documents:

• 12886_2017_549_MOESM4_ESM.pdf
• 12886_2017_549_MOESM3_ESM.pdf

View BVdb publication page

Mutation analysis of HIF prolyl hydroxylases (PHD/EGLN) in individuals with features of phaeochromocytoma and renal cell carcinoma susceptibility.

Endocrine-Related Cancer

Astuti, Dewi D; Ricketts, Christopher J CJ; Chowdhury, Rasheduzzaman R; McDonough, Michael A MA; Gentle, Dean D; Kirby, Gail G; Schlisio, Susanne S; Kenchappa, Rajappa S RS; Carter, Bruce D BD; Kaelin, William G WG; Ratcliffe, Peter J PJ; Schofield, Christopher J CJ; Latif, Farida F; Maher, Eamonn R ER

Publication Date: 2011-02

Variant appearance in text: TYR: 740G>T

PubMed Link: 20959442

Variant Present in the following documents:

• ERC100113.pdf

View BVdb publication page