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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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