Publications:

Likely damaging de novo variants in congenital diaphragmatic hernia patients are associated with worse clinical outcomes.

Genetics In Medicine : Official Journal Of The American College Of Medical Genetics

Qiao, Lu L; Wynn, Julia J; Yu, Lan L; Hernan, Rebecca R; Zhou, Xueya X; Duron, Vincent V; Aspelund, Gudrun G; Farkouh-Karoleski, Christiana C; Zygumunt, Annette A; Krishnan, Usha S US; Nees, Shannon S; Khlevner, Julie J; Lim, Foong Yen FY; Crombleholme, Timothy T; Cusick, Robert R; Azarow, Kenneth K; Danko, Melissa Ellen ME; Chung, Dai D; Warner, Brad W BW; Mychaliska, George B GB; Potoka, Douglas D; Wagner, Amy J AJ; Soffer, Samuel S; Schindel, David D; McCulley, David J DJ; Shen, Yufeng Y; Chung, Wendy K WK

Publication Date: 2020-12

Variant appearance in text: DMD: 10620G>A; P3540=

PubMed Link: 32719394

Variant Present in the following documents:

• NIHMS1619686-supplement-Supplementary_tables.xlsx, sheet 3

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Ordered disorder of the astrocytic dystrophin-associated protein complex in the norm and pathology.

Plos One

Na, Insung I; Redmon, Derek D; Kopa, Markus M; Qin, Yiru Y; Xue, Bin B; Uversky, Vladimir N VN

Publication Date: 2013

Variant appearance in text: rs72466538

PubMed Link: 24014171

Variant Present in the following documents:

• Main text
• pone.0073476.pdf

View BVdb publication page