Publications:

Differential Mutation Detection Capability Through Capture-Based Targeted Sequencing in Plasma Samples in Hepatocellular Carcinoma.

Frontiers In Oncology

Gao, Jian J; Xi, Lei L; Yu, Rentao R; Xu, Huailong H; Wu, Min M; Huang, Hong H

Publication Date: 2021

Variant appearance in text: APOB: 3911G>T

PubMed Link: 33996539

Variant Present in the following documents:

• DataSheet_8.xlsx, sheet 4
• DataSheet_8.xlsx, sheet 3

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Restrictive Cardiomyopathy is Caused by a Novel Homozygous Desmin (DES) Mutation p.Y122H Leading to a Severe Filament Assembly Defect.

Genes

Brodehl, Andreas A; Pour Hakimi, Seyed Ahmad SA; Stanasiuk, Caroline C; Ratnavadivel, Sandra S; Hendig, Doris D; Gaertner, Anna A; Gerull, Brenda B; Gummert, Jan J; Paluszkiewicz, Lech L; Milting, Hendrik H

Publication Date: 2019-11-11

Variant appearance in text: APOB: G1304V; rs142798172

PubMed Link: 31718026

Variant Present in the following documents:

• genes-10-00918-s001.pdf

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Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research

Zhou, Yitian Y; Mägi, Reedik R; Milani, Lili L; Lauschke, Volker M VM

Publication Date: 2018-10

Variant appearance in text: rs142798172

PubMed Link: 30076208

Variant Present in the following documents:

• 10.1194_P086710_jlr.P086710-4.xlsx, sheet 1

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