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USP44 c.130del ;(p.C44Afs*29)
Variant ID: 12-95927903-CA-C
NM_032147.3(
USP44
):c.130del;(p.C44Afs*29)
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:
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia.
Nature Neuroscience
Genovese, Giulio G; Fromer, Menachem M; Stahl, Eli A EA; Ruderfer, Douglas M DM; Chambert, Kimberly K; Landén, Mikael M; Moran, Jennifer L JL; Purcell, Shaun M SM; Sklar, Pamela P; Sullivan, Patrick F PF; Hultman, Christina M CM; McCarroll, Steven A SA
Publication Date: 2016-11
Variant appearance in text: USP44: 130delT; Cys44fs
PubMed Link:
27694994
Variant Present in the following documents:
NIHMS815183-supplement-supp_table3.xlsx, sheet 1
View BVdb publication page