APOB c.10700C>T ;(p.T3567M)

Variant ID: 2-21229040-G-A

NM_000384.2(APOB):c.10700C>T;(p.T3567M)

This variant was identified in 8 publications

View GRCh38 version.




Publications:


Exome sequencing in fetuses with short long bones detected by ultrasonography: A retrospective cohort study.

Frontiers In Genetics
Huang, Yanlin Y; Liu, Chang C; Ding, Hongke H; Wang, Yunan Y; Yu, Lihua L; Guo, Fangfang F; Li, Fake F; Shi, Xiaomei X; Zhang, Yan Y; Yin, Aihua A
Publication Date: 2023

Variant appearance in text: APOB: 10700C>T; Thr3567Met
PubMed Link: 36923788
Variant Present in the following documents:
  • Table3.xlsx, sheet 1
View BVdb publication page



Whole exome sequencing identifies novel inherited genetic variants in tetralogy of Fallot.

Journal Of Thoracic Disease
Pan, Yu Y; Liu, Manli M; Zhang, Songsong S; Mei, Huaxian H; Wu, Jing J
Publication Date: 2022-08

Variant appearance in text: APOB: 10700C>T; Thr3567Met
PubMed Link: 36071769
Variant Present in the following documents:
  • Main text
  • jtd-14-08-3008.pdf
View BVdb publication page



Proprotein convertase subtilisin/kexin type 9 inhibitor non responses in an adult with a history of coronary revascularization: A case report.

World Journal Of Clinical Cases
Yang, Liu L; Xiao, Yan-Yan YY; Shao, Liang L; Ouyang, Chang-Sheng CS; Hu, Yao Y; Li, Bin B; Lei, Li-Feng LF; Wang, Hong H
Publication Date: 2022-07-06

Variant appearance in text: APOB: T3567M
PubMed Link: 35979295
Variant Present in the following documents:
  • WJCC-10-6728.pdf
View BVdb publication page



Familial Hypercholesterolemia Genetic Variations and Long-Term Cardiovascular Outcomes in Patients with Hypercholesterolemia Who Underwent Coronary Angiography.

Genes
Lee, Wen-Jane WJ; Chuang, Han-Ni HN; Chen, Yi-Ming YM; Liang, Kae-Woei KW; Tung, Hsin H; Chen, Jun-Peng JP; Lee, I-Te IT; Wang, Jun-Sing JS; Lin, Ching-Heng CH; Lin, Hsueh-Ju HJ; Sheu, Wayne Huey-Herng WH; Lee, Wen-Lieng WL; Hsiao, Tzu-Hung TH
Publication Date: 2021-09-14

Variant appearance in text: APOB: 10700C>T
PubMed Link: 34573395
Variant Present in the following documents:
  • Main text
  • genes-12-01413.pdf
View BVdb publication page



The prevalence, genetic complexity and population-specific founder effects of human autosomal recessive disorders.

Npj Genomic Medicine
Xiao, Qingyang Q; Lauschke, Volker M VM
Publication Date: 2021-06-02

Variant appearance in text: APOB: 10700C>T; Thr3567Met; rs368278927
PubMed Link: 34078906
Variant Present in the following documents:
  • 41525_2021_203_MOESM2_ESM.xlsx, sheet 1
View BVdb publication page



The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.

Cell Research
Cao, Yanan Y; Li, Lin L; Xu, Min M; Feng, Zhimin Z; Sun, Xiaohui X; Lu, Jieli J; Xu, Yu Y; Du, Peina P; Wang, Tiange T; Hu, Ruying R; Ye, Zhen Z; Shi, Lixin L; Tang, Xulei X; Yan, Li L; Gao, Zhengnan Z; Chen, Gang G; Zhang, Yinfei Y; Chen, Lulu L; Ning, Guang G; Bi, Yufang Y; Wang, Weiqing W; ,
Publication Date: 2020-09

Variant appearance in text: APOB: 10700C>T; Thr3567Met; rs368278927
PubMed Link: 32355288
Variant Present in the following documents:
  • 41422_2020_322_MOESM14_ESM.xlsx, sheet 1
View BVdb publication page



Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics
Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA
Publication Date: 2020-02-10

Variant appearance in text: APOB: 10700C>T; Thr3567Met
PubMed Link: 32041611
Variant Present in the following documents:
  • 12920_2020_669_MOESM1_ESM.xlsx, sheet 3
View BVdb publication page



Optimizing clinical exome design and parallel gene-testing for recessive genetic conditions in preconception carrier screening: Translational research genomic data from 14,125 exomes.

Plos Genetics
Capalbo, Antonio A; Valero, Roberto Alonso RA; Jimenez-Almazan, Jorge J; Pardo, Pere Mir PM; Fabiani, Marco M; Jiménez, David D; Simon, Carlos C; Rodriguez, Julio Martin JM
Publication Date: 2019-10

Variant appearance in text: APOB: 10700C>T; Thr3567Met; rs368278927
PubMed Link: 31589614
Variant Present in the following documents:
  • pgen.1008409.s001.xlsx, sheet 1
  • pgen.1008409.s003.xlsx, sheet 1
View BVdb publication page