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APOB c.11928del ;(p.N3977Ifs*30)
Variant ID: 2-21227300-TG-T
NM_000384.2(
APOB
):c.11928del;(p.N3977Ifs*30)
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:
Extreme Contrast of Postprandial Remnant-Like Particles Formed in Abetalipoproteinemia and Homozygous Familial Hypobetalipoproteinemia.
Jimd Reports
Kawashiri, Masa-Aki MA; Tada, Hayato H; Hashimoto, Marowa M; Taniyama, Matsuo M; Nakano, Takamitsu T; Nakajima, Katsuyuki K; Inoue, Takeshi T; Mori, Mika M; Nakanishi, Chiaki C; Konno, Tetsuo T; Hayashi, Kenshi K; Nohara, Atsushi A; Inazu, Akihiro A; Koizumi, Junji J; Ishihara, Hirotaka H; Kobayashi, Junji J; Hirano, Tsutomu T; Mabuchi, Hiroshi H; Yamagishi, Masakazu M
Publication Date: 2015
Variant appearance in text: APOB: 11928delC
PubMed Link:
25763510
Variant Present in the following documents:
Main text
View BVdb publication page