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: K1273R

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: K1273R

PubMed Link: 34318601

Variant Present in the following documents:

• Main text
• MGG3-9-e1753.pdf

View BVdb publication page

Comparative analysis of primary versus relapse/refractory DLBCL identifies shifts in mutation spectrum.

Oncotarget

Greenawalt, Danielle M DM; Liang, Winnie S WS; Saif, Sakina S; Johnson, Justin J; Todorov, Petar P; Dulak, Austin A; Enriquez, Daniel D; Halperin, Rebecca R; Ahmed, Ambar A; Saveliev, Vladislav V; Carpten, John J; Craig, David D; Barrett, J Carl JC; Dougherty, Brian B; Zinda, Michael M; Fawell, Stephen S; Dry, Jonathan R JR; Byth, Kate K

Publication Date: 2017-11-21

Variant appearance in text: COL3A1: 3818A>G; K1273R; rs144614075

PubMed Link: 29245897

Variant Present in the following documents:

• oncotarget-08-99237-s002.xlsx, sheet 1

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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: 3818A>G; Lys1273Arg

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

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Clinically relevant variants identified in thoracic aortic aneurysm patients by research exome sequencing.

American Journal Of Medical Genetics. Part A

Schubert, Jeffrey A JA; Landis, Benjamin J BJ; Shikany, Amy R AR; Hinton, Robert B RB; Ware, Stephanie M SM

Publication Date: 2016-05

Variant appearance in text: COL3A1: 3818A>G; Lys1273Arg

PubMed Link: 26854089

Variant Present in the following documents:

• Main text

View BVdb publication page