Publications:

A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.

Molecular Genetics & Genomic Medicine

Ruscitti, Federica F; Trevisan, Lucia L; Rosti, Giulia G; Gotta, Fabio F; Cianflone, Annalia A; Geroldi, Alessandro A; Origone, Paola P; Pichiecchio, Anna A; Viglio, Simona S; Iascone, Maria M; Mandich, Paola P

Publication Date: 2021-09

Variant appearance in text: COL3A1: N389Y

PubMed Link: 34318601

Variant Present in the following documents:

• Main text
• MGG3-9-e1753.pdf

View BVdb publication page

A novel mutation in COL3A1 associates to vascular Ehlers-Danlos syndrome with predominant musculoskeletal involvement.

Molecular Genetics & Genomic Medicine

Ruscitti, Federica F; Trevisan, Lucia L; Rosti, Giulia G; Gotta, Fabio F; Cianflone, Annalia A; Geroldi, Alessandro A; Origone, Paola P; Pichiecchio, Anna A; Viglio, Simona S; Iascone, Maria M; Mandich, Paola P

Publication Date: 2021-09

Variant appearance in text: COL3A1: N389Y

PubMed Link: 34318601

Variant Present in the following documents:

• Main text
• MGG3-9-e1753.pdf

View BVdb publication page

Tumor genomic, transcriptomic, and immune profiling characterizes differential response to first-line platinum chemotherapy in high grade serous ovarian cancer.

Cancer Medicine

Weberpals, Johanne I JI; Pugh, Trevor J TJ; Marco-Casanova, Paola P; Goss, Glenwood D GD; Andrews Wright, Natalie N; Rath, Prisni P; Torchia, Jonathon J; Fortuna, Alexander A; Jones, Gemma N GN; Roudier, Martine P MP; Bernard, Laurence L; Lo, Bryan B; Torti, Dax D; Leon, Alberto A; Marsh, Kayla K; Hodgson, Darren D; Duciaume, Marc M; Howat, William J WJ; Lukashchuk, Natalia N; Lazic, Stanley E SE; Whelan, Doreen D; Sekhon, Harmanjatinder S HS

Publication Date: 2021-05

Variant appearance in text: COL3A1: N389Y; rs200394946

PubMed Link: 33811746

Variant Present in the following documents:

• CAM4-10-3045-s001.xlsx, sheet 2

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How common are single gene mutations as a cause for lacunar stroke? A targeted gene panel study.

Neurology

Tan, Rhea Y Y RYY; Traylor, Matthew M; Megy, Karyn K; Duarte, Daniel D; Deevi, Sri V V SVV; Shamardina, Olga O; Mapeta, Rutendo P RP; , ; Ouwehand, Willem H WH; Gräf, Stefan S; Downes, Kate K; Markus, Hugh S HS

Publication Date: 2019-11-26

Variant appearance in text: COL3A1: 1165A>T; Asn389Tyr; rs200394946

PubMed Link: 31719132

Variant Present in the following documents:

• NEUROLOGY2019966051.pdf

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Sources of discordance among germ-line variant classifications in ClinVar.

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

Yang, Shan S; Lincoln, Stephen E SE; Kobayashi, Yuya Y; Nykamp, Keith K; Nussbaum, Robert L RL; Topper, Scott S

Publication Date: 2017-10

Variant appearance in text: COL3A1: 1165A>T; Asn389Tyr

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page