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F2 c.385_386delinsGC ;(p.C129A)
Variant ID: 11-46744798-TG-GC
NM_000506.3(
F2
):c.385_386delinsGC;(p.C129A)
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:
Early folding events protect aggregation-prone regions of a β-rich protein.
Structure (London, England : 1993)
Budyak, Ivan L IL; Krishnan, Beena B; Marcelino-Cruz, Anna M AM; Ferrolino, Mylene C MC; Zhuravleva, Anastasia A; Gierasch, Lila M LM
Publication Date: 2013-03-05
Variant appearance in text: F2: C129A
PubMed Link:
23454187
Variant Present in the following documents:
Main text
View BVdb publication page