Associated Papers
Elucidating the Molecular Basis in a Cohort of Patients With Combined Bleeding Tendencies and Joint Hypermobility Manifestations.
Bandini P et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2025
Targeted next-generation sequencing reveals the genetic mechanism of Chinese Marfan syndrome cohort with ocular manifestation.
Han D et al.
Molecular Genetics & Genomic Medicine, 2024
38958168 (PubMed )
Supplement: MGG3-12-e2482-s006.xlsx › Supplementary_table_3
Germline Variants Associated with Nasopharyngeal Carcinoma Predisposition Identified through Whole-Exome Sequencing.
Lee NY et al.
Cancers, 2022
35954343 (PubMed )
Supplement: cancers-14-03680-s001.zip › NPC_WES_study_Table_S3.xlsx › All
Ehlers-Danlos syndrome type IV with a novel COL3A1 exon 14 skipping variation confirmed by Tohoku Medical Megabank Organization genomic database.
Shido K et al.
The Journal of Dermatology, 2021
Collagen remodelling and plasma ascorbic acid levels in patients suspected of inherited bleeding disorders harbouring germline variants in collagen-related genes.
Fager Ferrari M et al.
Haemophilia : the Official Journal of the World Federation of Hemophilia, 2021
Type III collagen (COL3A1): Gene and protein structure, tissue distribution, and associated diseases.
Kuivaniemi H et al.
Gene, 2019
An enhanced workflow for variant interpretation in UniProtKB/Swiss-Prot improves consistency and reuse in ClinVar.
Famiglietti ML et al.
Database : the Journal of Biological Databases and Curation, 2019
30937429 (PubMed )
Supplement: famiglietti_supplementarytables1_rev_baz040.xlsx › common
Variant discovery in patients with Mendelian vascular anomalies by next-generation sequencing and their use in patient clinical management.
Mattassi R et al.
Journal of Vascular Surgery, 2018
Exome Sequencing Identifies Candidate Genetic Modifiers of Syndromic and Familial Thoracic Aortic Aneurysm Severity.
Landis BJ et al.
Journal of Cardiovascular Translational Research, 2017
De novo mutations in moderate or severe intellectual disability.
Hamdan FF et al.
Plos Genetics, 2014
25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 341.162
Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.
Seddon JM et al.
Nature Genetics, 2013
24036952 (PubMed )
Supplement: NIHMS512112-supplement-2.xlsx › Supplementary_Table_2B
Natural variation in four human collagen genes across an ethnically diverse population.
Chan TF et al.
Genomics, 2008
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