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.




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