LDLR c.336_337insT ;(p.E113*)

Variant ID: 19-11215918-C-CT

NM_000527.4(LDLR):c.336_337insT;(p.E113*)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Whole-exome sequencing reveals damaging gene variants associated with hypoalphalipoproteinemia.

Journal Of Lipid Research
Dong, Weilai W; Wong, Karen H Y KHY; Liu, Youbin Y; Levy-Sakin, Michal M; Hung, Wei-Chien WC; Li, Mo M; Li, Boyang B; Jin, Sheng Chih SC; Choi, Jungmin J; Lopez-Giraldez, Francesc F; Vaka, Dedeepya D; Poon, Annie A; Chu, Catherine C; Lao, Richard R; Balamir, Melek M; Movsesyan, Irina I; Malloy, Mary J MJ; Zhao, Hongyu H; Kwok, Pui-Yan PY; Kane, John P JP; Lifton, Richard P RP; Pullinger, Clive R CR
Publication Date: 2022-06

Variant appearance in text: N/A
PubMed Link: 35460704
Variant Present in the following documents:
View BVdb publication page



The panorama of familial hypercholesterolemia in Latin America: a systematic review.

Journal Of Lipid Research
Mehta, Roopa R; Zubirán, Rafael R; Martagón, Alexandro J AJ; Vazquez-Cárdenas, Alejandra A; Segura-Kato, Yayoi Y; Tusié-Luna, María Teresa MT; Aguilar-Salinas, Carlos A CA
Publication Date: 2016-12

Variant appearance in text: N/A
PubMed Link: 27777316
Variant Present in the following documents:
View BVdb publication page