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: P1440L

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: P1440L

PubMed Link: 34318601

Variant Present in the following documents:

• Main text
• MGG3-9-e1753.pdf

View BVdb publication page

Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.

Gene

Kuivaniemi, Helena H; Tromp, Gerard G

Publication Date: 2019-07-30

Variant appearance in text: COL3A1: Pro1440Leu

PubMed Link: 31075413

Variant Present in the following documents:

• Main text

View BVdb publication page

iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: COL3A1: P1440L

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

View BVdb publication page