Publications:

Limited-Variant Screening vs Comprehensive Genetic Testing for Familial Hypercholesterolemia Diagnosis.

Jama Cardiology

Sturm, Amy C AC; Truty, Rebecca R; Callis, Thomas E TE; Aguilar, Sienna S; Esplin, Edward D ED; Garcia, Sarah S; Haverfield, Eden V EV; Morales, Ana A; Nussbaum, Robert L RL; Rojahn, Susan S; Vatta, Matteo M; Rader, Daniel J DJ

Publication Date: 2021-08-01

Variant appearance in text: LDLR: 1013G>C; Cys338Ser

PubMed Link: 34037665

Variant Present in the following documents:

• jamacardiol-e211301-s001.pdf

View BVdb publication page

Genetic Analysis of Japanese Children Clinically Diagnosed with Familial Hypercholesterolemia.

Journal Of Atherosclerosis And Thrombosis

Nagahara, Keiko K; Nishibukuro, Tsuyoshi T; Ogiwara, Yasuko Y; Ikegawa, Kento K; Tada, Hayato H; Yamagishi, Masakazu M; Kawashiri, Masa-Aki MA; Ochi, Ayako A; Toyoda, Junya J; Nakano, Yuya Y; Adachi, Masanori M; Mizuno, Katsumi K; Hasegawa, Yukihiro Y; Dobashi, Kazushige K

Publication Date: 2022-05-01

Variant appearance in text: LDLR: Cys338Ser

PubMed Link: 34011801

Variant Present in the following documents:

• jat-29-667.pdf

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GESPA: classifying nsSNPs to predict disease association.

Bmc Bioinformatics

Khurana, Jay K JK; Reeder, Jay E JE; Shrimpton, Antony E AE; Thakar, Juilee J

Publication Date: 2015-07-25

Variant appearance in text: LDLR: C338S

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

View BVdb publication page