Publications:

Repeated intestinal perforations in vascular Ehlers-Danlos syndrome: a case report of a novel mutation in the COL3A1 gene.

Surgical Case Reports

Horino, Taichi T; Miyamoto, Yuji Y; Ohuchi, Mayuko M; Ogawa, Katsuhiro K; Yoshida, Naoya N; Ishiko, Takatoshi T; Kukinaka, Chieko C; Sasaki, Rumi R; Ohba, Takashi T; Baba, Hideo H

Publication Date: 2023-05-12

Variant appearance in text: COL3A1: 2095G>C; Gly699Arg

PubMed Link: 37171638

Variant Present in the following documents:

• Main text
• 40792_2023_Article_1643.pdf

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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: 2095G>C; Gly699Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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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: 2095G>C; Gly699Arg

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: G699R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 3

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