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ABCB4 c.1378A>T ;(p.I460F)
Variant ID: 7-87069697-T-A
NM_000443.3(
ABCB4
):c.1378A>T;(p.I460F)
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:
What is the right sequencing approach? Solo VS extended family analysis in consanguineous populations.
Bmc Medical Genomics
Alfares, Ahmed A; Alsubaie, Lamia L; Aloraini, Taghrid T; Alaskar, Aljoharah A; Althagafi, Azza A; Alahmad, Ahmed A; Rashid, Mamoon M; Alswaid, Abdulrahman A; Alothaim, Ali A; Eyaid, Wafaa W; Ababneh, Faroug F; Albalwi, Mohammed M; Alotaibi, Raniah R; Almutairi, Mashael M; Altharawi, Nouf N; Alsamer, Alhanouf A; Abdelhakim, Marwa M; Kafkas, Senay S; Mineta, Katsuhiko K; Cheung, Nicole N; Abdallah, Abdallah M AM; Büchmann-Møller, Stine S; Fukasawa, Yoshinori Y; Zhao, Xiang X; Rajan, Issaac I; Hoehndorf, Robert R; Al Mutairi, Fuad F; Gojobori, Takashi T; Alfadhel, Majid M
Publication Date: 2020-07-17
Variant appearance in text: ABCB4: 1378A>T; Ile460Phe
PubMed Link:
32680510
Variant Present in the following documents:
12920_2020_743_MOESM3_ESM.xlsx, sheet 1
View BVdb publication page