Publications:

Whole-exome sequencing analysis of Waardenburg syndrome in a Chinese family.

Human Genome Variation

Chen, Dezhong D; Zhao, Na N; Wang, Jing J; Li, Zhuoyu Z; Wu, Changxin C; Fu, Jie J; Xiao, Han H

Publication Date: 2017

Variant appearance in text: rs535716

PubMed Link: 28690861

Variant Present in the following documents:

• hgv201727-s1.xls, sheet 1

View BVdb publication page

Generation of a High Number of Healthy Erythroid Cells from Gene-Edited Pyruvate Kinase Deficiency Patient-Specific Induced Pluripotent Stem Cells.

Stem Cell Reports

Garate, Zita Z; Quintana-Bustamante, Oscar O; Crane, Ana M AM; Olivier, Emmanuel E; Poirot, Laurent L; Galetto, Roman R; Kosinski, Penelope P; Hill, Collin C; Kung, Charles C; Agirre, Xabi X; Orman, Israel I; Cerrato, Laura L; Alberquilla, Omaira O; Rodriguez-Fornes, Fatima F; Fusaki, Noemi N; Garcia-Sanchez, Felix F; Maia, Tabita M TM; Ribeiro, Maria L ML; Sevilla, Julian J; Prosper, Felipe F; Jin, Shengfang S; Mountford, Joanne J; Guenechea, Guillermo G; Gouble, Agnes A; Bueren, Juan A JA; Davis, Brian R BR; Segovia, Jose C JC

Publication Date: 2015-12-08

Variant appearance in text: rs535716

PubMed Link: 26549847

Variant Present in the following documents:

• mmc3.xlsx, sheet 3
• mmc3.xlsx, sheet 2

View BVdb publication page

Genetic association analysis of 13 nuclear-encoded mitochondrial candidate genes with type II diabetes mellitus: the DAMAGE study.

European Journal Of Human Genetics : Ejhg

Reiling, Erwin E; van Vliet-Ostaptchouk, Jana V JV; van 't Riet, Esther E; van Haeften, Timon W TW; Arp, Pascal A PA; Hansen, Torben T; Kremer, Dennis D; Groenewoud, Marlous J MJ; van Hove, Els C EC; Romijn, Johannes A JA; Smit, Jan W A JW; Nijpels, Giel G; Heine, Robert J RJ; Uitterlinden, André G AG; Pedersen, Oluf O; Slagboom, P Eline PE; Maassen, Johannes A JA; Hofker, Marten H MH; 't Hart, Leen M LM; Dekker, Jacqueline M JM

Publication Date: 2009-08

Variant appearance in text: rs535716

PubMed Link: 19209188

Variant Present in the following documents:

• Main text

View BVdb publication page