Publications:

Genetic Diagnosis of Familial Hypercholesterolemia in Asia.

Frontiers In Genetics

Huang, Chin-Chou CC; Charng, Min-Ji MJ

Publication Date: 2020

Variant appearance in text: LDLR: 300C>T; D100D

PubMed Link: 32793292

Variant Present in the following documents:

• Main text
• fgene-11-00833.pdf

View BVdb publication page

A pan-cancer analysis of synonymous mutations.

Nature Communications

Sharma, Yogita Y; Miladi, Milad M; Dukare, Sandeep S; Boulay, Karine K; Caudron-Herger, Maiwen M; Groß, Matthias M; Backofen, Rolf R; Diederichs, Sven S

Publication Date: 2019-06-12

Variant appearance in text: LDLR: 300C>T

PubMed Link: 31189880

Variant Present in the following documents:

• 41467_2019_10489_MOESM7_ESM.xlsx, sheet 1

View BVdb publication page

Analysis of sequence variations in low-density lipoprotein receptor gene among Malaysian patients with familial hypercholesterolemia.

Bmc Medical Genetics

Al-Khateeb, Alyaa A; Zahri, Mohd K MK; Mohamed, Mohd S MS; Sasongko, Teguh H TH; Ibrahim, Suhairi S; Yusof, Zurkurnai Z; Zilfalil, Bin A BA

Publication Date: 2011-03-19

Variant appearance in text: LDLR: 300C>T; Asp100Asp

PubMed Link: 21418584

Variant Present in the following documents:

• Main text
• 1471-2350-12-40.pdf

View BVdb publication page