ASAH1 c.125+1346G>C

Variant ID: 8-17931704-C-G

NM_177924.3(ASAH1):c.125+1346G>C

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Acid ceramidase deficiency: Farber disease and SMA-PME.

Orphanet Journal Of Rare Diseases
Yu, Fabian P S FPS; Amintas, Samuel S; Levade, Thierry T; Medin, Jeffrey A JA
Publication Date: 2018-07-20

Variant appearance in text: rs3753118
PubMed Link: 30029679
Variant Present in the following documents:
  • Main text
  • 13023_2018_Article_845.pdf
View BVdb publication page



Research in China on the molecular genetics of schizophrenia.

Shanghai Archives Of Psychiatry
Cui, Donghong D; Jiang, Kaida K
Publication Date: 2012-08

Variant appearance in text: rs3753118
PubMed Link: 25324626
Variant Present in the following documents:
  • Main text
  • sap-24-04-187.pdf
View BVdb publication page