Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: DMD: 8800G>T; Glu2934Ter

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

Clinical and genetic spectra in patients with dystrophinopathy in Korea: A single-center study.

Plos One

Yun, UnKyu U; Lee, Seung-Ah SA; Choi, Won Ah WA; Kang, Seong-Woong SW; Seo, Go Hun GH; Lee, Jung Hwan JH; Park, Goeun G; Lee, Sujee S; Choi, Young-Chul YC; Park, Hyung Jun HJ

Publication Date: 2021

Variant appearance in text: DMD: 8800G>T; Glu2934Ter

PubMed Link: 34297739

Variant Present in the following documents:

• pone.0255011.s001.pdf

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Multiplex Ligation-Dependent Probe Amplification in X-linked Recessive Muscular Dystrophy in Korean Subjects.

Yonsei Medical Journal

Suh, Mi Ri MR; Lee, Kyung A KA; Kim, Eun Young EY; Jung, Jiho J; Choi, Won Ah WA; Kang, Seong Woong SW

Publication Date: 2017-05

Variant appearance in text: DMD: 8800G>T; Glu2934Ter

PubMed Link: 28332368

Variant Present in the following documents:

• Main text
• ymj-58-613.pdf

View BVdb publication page