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HP c.385_386delinsGC ;(p.N129A)
Variant ID: 16-72093030-AA-GC
NM_005143.3(
HP
):c.385_386delinsGC;(p.N129A)
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:
Functional roles in S-adenosyl-L-methionine binding and catalysis for active site residues of the thiostrepton resistance methyltransferase.
Febs Letters
Myers, Cullen L CL; Kuiper, Emily G EG; Grant, Pei C PC; Hernandez, Jennifer J; Conn, Graeme L GL; Honek, John F JF
Publication Date: 2015-10-24
Variant appearance in text: HP: N129A
PubMed Link:
26450779
Variant Present in the following documents:
Main text
View BVdb publication page