Publications:

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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: COL3A1: 755G>T; Gly252Val

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

View BVdb publication page

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Pathophysiology of carotid-cavernous fistulas in vascular Ehlers-Danlos syndrome: a retrospective cohort and comprehensive review.

Orphanet Journal Of Rare Diseases

Adham, Salma S; Trystram, Denis D; Albuisson, Juliette J; Domigo, Valérie V; Legrand, Anne A; Jeunemaitre, Xavier X; Frank, Michael M

Publication Date: 2018-06-25

Variant appearance in text: COL3A1: 755G>T; Gly252Val

PubMed Link: 29940997

Variant Present in the following documents:

• Main text
• 13023_2018_Article_842.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: COL3A1: G252V

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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Disease-causing allele-specific silencing by RNA interference.

Pharmaceuticals (Basel, Switzerland)

Hohjoh, Hirohiko H

Publication Date: 2013-04-11

Variant appearance in text: COL3A1: G252V

PubMed Link: 24276122

Variant Present in the following documents:

• Main text
• pharmaceuticals-06-00522.pdf

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Oral phenotype and scoring of vascular Ehlers-Danlos syndrome: a case-control study.

Bmj Open

Ferré, François Côme FC; Frank, Michael M; Gogly, Bruno B; Golmard, Lisa L; Naveau, Adrien A; Chérifi, Hafida H; Emmerich, Joseph J; Gaultier, Frédérick F; Berdal, Ariane A; Jeunemaitre, Xavier X; Fournier, Benjamin P J BP

Publication Date: 2012

Variant appearance in text: COL3A1: 755G>T; Gly252Val

PubMed Link: 22492385

Variant Present in the following documents:

• Main text
• bmjopen-2011-000705.pdf
• bmjopen-2011-000705.draft_revisions.pdf

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Allele-specific siRNA knockdown as a personalized treatment strategy for vascular Ehlers-Danlos syndrome in human fibroblasts.

Faseb Journal : Official Publication Of The Federation Of American Societies For Experimental Biology

Müller, Gerd A GA; Hansen, Uwe U; Xu, Zhi Z; Griswold, Benjamin B; Talan, Mark I MI; McDonnell, Nazli B NB; Briest, Wilfried W

Publication Date: 2012-02

Variant appearance in text: COL3A1: 755G>T; Gly252Val

PubMed Link: 22038052

Variant Present in the following documents:

• Main text

View BVdb publication page

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