GLDN c.363+12493G>A

Variant ID: 15-51646737-G-A

NM_181789.2(GLDN):c.363+12493G>A

This variant was identified in 3 publications

View GRCh38 version.




Publications:


Portopulmonary Hypertension: From Bench to Bedside.

Frontiers In Medicine
Thomas, Christopher C; Glinskii, Vladimir V; de Jesus Perez, Vinicio V; Sahay, Sandeep S
Publication Date: 2020

Variant appearance in text: rs7175922
PubMed Link: 33224960
Variant Present in the following documents:
  • Main text
  • fmed-07-569413.pdf
View BVdb publication page



Mutations in the beta propeller WDR72 cause autosomal-recessive hypomaturation amelogenesis imperfecta.

American Journal Of Human Genetics
El-Sayed, Walid W; Parry, David A DA; Shore, Roger C RC; Ahmed, Mushtaq M; Jafri, Hussain H; Rashid, Yasmin Y; Al-Bahlani, Suhaila S; Al Harasi, Sharifa S; Kirkham, Jennifer J; Inglehearn, Chris F CF; Mighell, Alan J AJ
Publication Date: 2009-11

Variant appearance in text: rs7175922
PubMed Link: 19853237
Variant Present in the following documents:
  • mmc1.pdf
View BVdb publication page



Genetic risk factors for portopulmonary hypertension in patients with advanced liver disease.

American Journal Of Respiratory And Critical Care Medicine
Roberts, Kari E KE; Fallon, Michael B MB; Krowka, Michael J MJ; Brown, Robert S RS; Trotter, James F JF; Peter, Inga I; Tighiouart, Hocine H; Knowles, James A JA; Rabinowitz, Daniel D; Benza, Raymond L RL; Badesch, David B DB; Taichman, Darren B DB; Horn, Evelyn M EM; Zacks, Steven S; Kaplowitz, Neil N; Kawut, Steven M SM; ,
Publication Date: 2009-05-01

Variant appearance in text: rs7175922
PubMed Link: 19218192
Variant Present in the following documents:
  • Main text
View BVdb publication page