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ABCB4 c.718_719delinsTA ;(p.A240*)
Variant ID: 7-87079398-GC-TA
NM_000443.3(
ABCB4
):c.718_719delinsTA;(p.A240*)
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:
Inward- and outward-facing X-ray crystal structures of homodimeric P-glycoprotein CmABCB1.
Nature Communications
Kodan, Atsushi A; Yamaguchi, Tomohiro T; Nakatsu, Toru T; Matsuoka, Keita K; Kimura, Yasuhisa Y; Ueda, Kazumitsu K; Kato, Hiroaki H
Publication Date: 2019-01-08
Variant appearance in text: MDR3: A240*
PubMed Link:
30622258
Variant Present in the following documents:
41467_2018_Article_8007.pdf
View BVdb publication page