Publications:

Bi-allelic mutation in SEC16B alters collagen trafficking and increases ER stress.

Embo Molecular Medicine

El-Gazzar, Ahmed A; Voraberger, Barbara B; Rauch, Frank F; Mairhofer, Mario M; Schmidt, Katy K; Guillemyn, Brecht B; Mitulović, Goran G; Reiterer, Veronika V; Haun, Margot M; Mayr, Michaela M MM; Mayr, Johannes A JA; Kimeswenger, Susanne S; Drews, Oliver O; Saraff, Vrinda V; Shaw, Nick N; Fratzl-Zelman, Nadja N; Symoens, Sofie S; Farhan, Hesso H; Högler, Wolfgang W

Publication Date: 2023-03-14

Variant appearance in text: CFLAR: 606+934G>A

PubMed Link: 36916446

Variant Present in the following documents:

• EMMM-15-e16834-s012.xlsx, sheet 1

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Expression Changes Confirm Genomic Variants Predicted to Result in Allele-Specific, Alternative mRNA Splicing.

Frontiers In Genetics

Mucaki, Eliseos J EJ; Shirley, Ben C BC; Rogan, Peter K PK

Publication Date: 2020

Variant appearance in text: CFLAR: 606+934G>A; rs10190751

PubMed Link: 32211018

Variant Present in the following documents:

• Main text

View BVdb publication page