ALB c.1785+211C>A

Variant ID: 4-74285567-C-A

NM_000477.5(ALB):c.1785+211C>A

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic Evidence Supporting the Role of the Calcium Channel, CACNA1S, in Tooth Cusp and Root Patterning.

Frontiers In Physiology
Laugel-Haushalter, Virginie V; Morkmued, Supawich S; Stoetzel, Corinne C; Geoffroy, Véronique V; Muller, Jean J; Boland, Anne A; Deleuze, Jean-François JF; Chennen, Kirsley K; Pitiphat, Waranuch W; Dollfus, Hélène H; Niederreither, Karen K; Bloch-Zupan, Agnès A; Pungchanchaikul, Patimaporn P
Publication Date: 2018

Variant appearance in text: ALB: 1785+211C>A; rs962005
PubMed Link: 30319441
Variant Present in the following documents:
  • Table_5.xlsx, sheet 1
  • Table_6.xlsx, sheet 1
  • Table_7.xlsx, sheet 1
View BVdb publication page



Promoterless gene targeting without nucleases ameliorates haemophilia B in mice.

Nature
Barzel, A A; Paulk, N K NK; Shi, Y Y; Huang, Y Y; Chu, K K; Zhang, F F; Valdmanis, P N PN; Spector, L P LP; Porteus, M H MH; Gaensler, K M KM; Kay, M A MA
Publication Date: 2015-01-15

Variant appearance in text: rs962005
PubMed Link: 25363772
Variant Present in the following documents:
  • Main text
  • nihms628383.pdf
View BVdb publication page