Publications:

Low circulating PCSK9 levels in LPL homozygous children with chylomicronemia syndrome in a syrian refugee family in Lebanon.

Frontiers In Genetics

Ayoub, Carine C; Azar, Yara Y; Maddah, Dina D; Ghaleb, Youmna Y; Elbitar, Sandy S; Abou-Khalil, Yara Y; Jambart, Selim S; Varret, Mathilde M; Boileau, Catherine C; El Khoury, Petra P; Abifadel, Marianne M

Publication Date: 2022

Variant appearance in text: LPL: Ser286Arg

PubMed Link: 36061186

Variant Present in the following documents:

• Main text
• fgene-13-961028.pdf

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The Genetic Spectrum of Familial Hypertriglyceridemia in Oman.

Frontiers In Genetics

Al-Waili, Khalid K; Al-Rasadi, Khalid K; Al-Bulushi, Muna M; Habais, Mohammed M; Al-Mujaini, Abdullah A; Al-Yaarubi, Saif S; Rimbert, Antoine A; Zadjali, Razan R; Khaniabadi, Pegah Moradi PM; Al-Barwani, Hamida H; Hasary, Sana S; Al-Dahmani, Zayana M ZM; Al-Badi, Hala H; Al-Maawali, Almundher A; Zadjali, Fahad F

Publication Date: 2022

Variant appearance in text: LPL: 858T>A; Ser286Arg

PubMed Link: 35669187

Variant Present in the following documents:

• Main text
• fgene-13-886182.pdf

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Rare LPL gene missense mutation in an infant with hypertriglyceridemia.

Journal Of Clinical Laboratory Analysis

Qin, Yuan-Yuan YY; Wei, Ai-Qiu AQ; Shan, Qing-Wen QW; Xian, Xiao-Ying XY; Wu, Yang-Yang YY; Liao, Lin L; Yan, Jie J; Lai, Zhan-Feng ZF; Lin, Fa-Quan FQ

Publication Date: 2018-07

Variant appearance in text: LPL: S286R

PubMed Link: 29479812

Variant Present in the following documents:

• Main text

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Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One

Holehouse, Alex S AS; Naegle, Kristen M KM

Publication Date: 2015

Variant appearance in text: LPL: S286R

PubMed Link: 26659599

Variant Present in the following documents:

• pone.0144692.s002.xlsx, sheet 1

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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: LPL: S286R

PubMed Link: 26206375

Variant Present in the following documents:

• 12859_2015_673_MOESM1_ESM.xls, sheet 4

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