PC c.399_402del ;(p.D133Efs*71)

Variant ID: 11-66638870-CTGCA-C

NM_001040716.1(PC):c.399_402del;(p.D133Efs*71)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


b3galt6 Knock-Out Zebrafish Recapitulate β3GalT6-Deficiency Disorders in Human and Reveal a Trisaccharide Proteoglycan Linkage Region.

Frontiers In Cell And Developmental Biology
Delbaere, Sarah S; De Clercq, Adelbert A; Mizumoto, Shuji S; Noborn, Fredrik F; Bek, Jan Willem JW; Alluyn, Lien L; Gistelinck, Charlotte C; Syx, Delfien D; Salmon, Phil L PL; Coucke, Paul J PJ; Larson, Göran G; Yamada, Shuhei S; Willaert, Andy A; Malfait, Fransiska F
Publication Date: 2020

Variant appearance in text: PC: 398_401del
PubMed Link: 33363150
Variant Present in the following documents:
  • Main text
  • fcell-08-597857.pdf
View BVdb publication page