Publications:

Carriers of COL3A1 pathogenic variants in Denmark: Interfamilial variability in severity and outcome of elective surgical procedures.

Clinical Genetics

Sølyst, Sofus S; Oksjoki, Riina R; Farholt, Stense S; Nielsen, Dorte Guldbrand DG; Christensen, Alex H AH; Fagerberg, Christina R CR; Risom, Lotte L; Gregersen, Pernille Axél PA; Christensen, Maria Bejerholm MB; Rasmussen, Torsten Bloch TB; Diness, Birgitte Rode BR

Publication Date: 2022-09

Variant appearance in text: COL3A1: 2689G>A; Gly897Ser

PubMed Link: 35699227

Variant Present in the following documents:

• Main text
• CGE-102-191.pdf

View BVdb publication page

The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine

Xiao, Qingyang Q; Lauschke, Volker M VM

Publication Date: 2021-06-02

Variant appearance in text: COL3A1: 2689G>A; Gly897Ser; rs794728054

PubMed Link: 34078906

Variant Present in the following documents:

• 41525_2021_203_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

REVEL and BayesDel outperform other in silico meta-predictors for clinical variant classification.

Scientific Reports

Tian, Yuan Y; Pesaran, Tina T; Chamberlin, Adam A; Fenwick, R Bryn RB; Li, Shuwei S; Gau, Chia-Ling CL; Chao, Elizabeth C EC; Lu, Hsiao-Mei HM; Black, Mary Helen MH; Qian, Dajun D

Publication Date: 2019-09-04

Variant appearance in text: COL3A1: 2689G>A; G897S

PubMed Link: 31484976

Variant Present in the following documents:

• 41598_2019_49224_MOESM2_ESM.xlsx, sheet 1

View BVdb publication page

Somatic mutational landscape of AML with inv(16) or t(8;21) identifies patterns of clonal evolution in relapse leukemia.

Leukemia

Sood, R R; Hansen, N F NF; Donovan, F X FX; Carrington, B B; Bucci, D D; Maskeri, B B; Young, A A; Trivedi, N S NS; Kohlschmidt, J J; Stone, R M RM; Caligiuri, M A MA; Chandrasekharappa, S C SC; Marcucci, G G; Mullikin, J C JC; Bloomfield, C D CD; Liu, P P

Publication Date: 2016-02

Variant appearance in text: COL3A1: G897S

PubMed Link: 26139325

Variant Present in the following documents:

• NIHMS688930-supplement-4.pdf

View BVdb publication page