Publications:

Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.

American Journal Of Human Genetics

Wright, Caroline F CF; West, Ben B; Tuke, Marcus M; Jones, Samuel E SE; Patel, Kashyap K; Laver, Thomas W TW; Beaumont, Robin N RN; Tyrrell, Jessica J; Wood, Andrew R AR; Frayling, Timothy M TM; Hattersley, Andrew T AT; Weedon, Michael N MN

Publication Date: 2019-02-07

Variant appearance in text: LDLR: S130X

PubMed Link: 30665703

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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The Genetic Spectrum of Familial Hypercholesterolemia (FH) in the Iranian Population.

Scientific Reports

Fairoozy, R H RH; Futema, M M; Vakili, R R; Abbaszadegan, M R MR; Hosseini, S S; Aminzadeh, M M; Zaeri, H H; Mobini, M M; Humphries, S E SE; Sahebkar, A A

Publication Date: 2017-12-06

Variant appearance in text: LDLR: Ser130*

PubMed Link: 29213121

Variant Present in the following documents:

• Main text
• 41598_2017_Article_17181.pdf

View BVdb publication page