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PDE11A c.60G>A ;(p.E20=)
Variant ID: 2-178937105-C-T
NM_016953.3(
PDE11A
):c.60G>A;(p.E20=)
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Whole-Exome Sequencing Study of Extreme Phenotypes of NAFLD.
Hepatology Communications
Kleinstein, Sarah E SE; Rein, Matthew M; Abdelmalek, Manal F MF; Guy, Cynthia D CD; Goldstein, David B DB; Mae Diehl, Anna A; Moylan, Cynthia A CA
Publication Date: 2018-09
Variant appearance in text: rs147765540
PubMed Link:
30202817
Variant Present in the following documents:
HEP4-2-1021-s001.xlsx, sheet 3
View BVdb publication page