Publications:

A Schematic Approach to Defining the Prevalence of COL VI Variants in Five Years of Next-Generation Sequencing.

International Journal Of Molecular Sciences

Marinella, Gemma G; Astrea, Guja G; Buchignani, Bianca B; Cassandrini, Denise D; Doccini, Stefano S; Filosto, Massimiliano M; Galatolo, Daniele D; Gallone, Salvatore S; Giannini, Fabio F; Lopergolo, Diego D; Maioli, Maria Antonietta MA; Magri, Francesca F; Malandrini, Alessandro A; Mandich, Paola P; Mari, Francesco F; Massa, Roberto R; Mata, Sabrina S; Melani, Federico F; Moggio, Maurizio M; Mongini, Tiziana E TE; Pasquariello, Rosa R; Pegoraro, Elena E; Ricci, Federica F; Ricci, Giulia G; Rodolico, Carmelo C; Rubegni, Anna A; Siciliano, Gabriele G; Sperti, Martina M; Ticci, Chiara C; Tonin, Paola P; Santorelli, Filippo M FM; Battini, Roberta R

Publication Date: 2022-11-23

Variant appearance in text: COL6A1: 2635A>G; S879G

PubMed Link: 36498898

Variant Present in the following documents:

• ijms-23-14567.pdf

View BVdb publication page

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients.

Human Genomics

Fichna, Jakub Piotr JP; Macias, Anna A; Piechota, Marcin M; Korostyński, Michał M; Potulska-Chromik, Anna A; Redowicz, Maria Jolanta MJ; Zekanowski, Cezary C

Publication Date: 2018-07-03

Variant appearance in text: rs140534207

PubMed Link: 29970176

Variant Present in the following documents:

• 40246_2018_167_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

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: COL6A1: 2635A>G; Ser879Gly

PubMed Link: 28569743

Variant Present in the following documents:

• gim201760x7.xlsx, sheet 2

View BVdb publication page

Rare variants in CFI, C3 and C9 are associated with high risk of advanced age-related macular degeneration.

Nature Genetics

Seddon, Johanna M JM; Yu, Yi Y; Miller, Elizabeth C EC; Reynolds, Robyn R; Tan, Perciliz L PL; Gowrisankar, Sivakumar S; Goldstein, Jacqueline I JI; Triebwasser, Michael M; Anderson, Holly E HE; Zerbib, Jennyfer J; Kavanagh, David D; Souied, Eric E; Katsanis, Nicholas N; Daly, Mark J MJ; Atkinson, John P JP; Raychaudhuri, Soumya S

Publication Date: 2013-11

Variant appearance in text: COL6A1: S879G; rs140534207

PubMed Link: 24036952

Variant Present in the following documents:

• NIHMS512112-supplement-2.xlsx, sheet 2

View BVdb publication page