Publications:

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A Real-World Experience of Clinical, Biochemical and Genetic Assessment of Patients with Homozygous Familial Hypercholesterolemia.

Journal Of Clinical Medicine

MD Di Taranto, C Giacobbe, A Buonaiuto, I Calcaterra, D Palma, G Maione, G Iannuzzo, MND Di Minno, P Rubba, G Fortunato

Publication Date: 2020-01-14

Variant appearance in text: LDLR: 718G>A; Glu240Lys

PubMed Link: 31947532

Variant Present in the following documents:

• Main text

View BVdb publication page

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Contribution of next generation sequencing in pediatric practice in Lebanon. A Study on 213 cases.

Molecular Genetics & Genomic Medicine

P Nair, S Sabbagh, H Mansour, A Fawaz, G Hmaimess, P Noun, R Dagher, H Megarbane, S Hana, S Alame, M Lamaa, D Hasbini, R Farah, M Rajab, S Stora, O El-Tourjuman, P Abou Jaoude, G Chalouhi, R Sayad, AC Gillart, M Al-Ali, V Delague, S El-Hayek, A Mégarbané

Publication Date: 2018-11

Variant appearance in text: LDLR: 718G>A; Glu240Lys

PubMed Link: 30293248

Variant Present in the following documents:

• Main text

View BVdb publication page

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Variability in assigning pathogenicity to incidental findings: insights from LDLR sequence linked to the electronic health record in 1013 individuals.

European Journal Of Human Genetics : Ejhg

MS Safarova, EW Klee, LM Baudhuin, EM Winkler, ML Kluge, SJ Bielinski, JE Olson, IJ Kullo

Publication Date: 2017-04

Variant appearance in text: LDLR: Glu240Lys

PubMed Link: 28145427

Variant Present in the following documents:

• ejhg2016193x2.xlsx

View BVdb publication page

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Systematic cell-based phenotyping of missense alleles empowers rare variant association studies: a case for LDLR and myocardial infarction.

Plos Genetics

AS Thormaehlen, C Schuberth, HH Won, P Blattmann, B Joggerst-Thomalla, S Theiss, R Asselta, S Duga, PA Merlini, D Ardissino, ES Lander, S Gabriel, DJ Rader, GM Peloso, R Pepperkok, S Kathiresan, H Runz

Publication Date: 2015-02

Variant appearance in text: LDLR: E240K

PubMed Link: 25647241

Variant Present in the following documents:

• pgen.1004855.s013.docx

View BVdb publication page

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Targeted genetic testing for familial hypercholesterolaemia using next generation sequencing: a population-based study.

Bmc Medical Genetics

PJ Norsworthy, J Vandrovcova, ER Thomas, A Campbell, SM Kerr, J Biggs, L Game, AK Soutar, BH Smith, AF Dominiczak, DJ Porteous, AD Morris, G Scotland, TJ Aitman

Publication Date: 2014-06-23

Variant appearance in text: LDLR: 718G>A; Glu240Lys

PubMed Link: 24956927

Variant Present in the following documents:

• Main text

View BVdb publication page

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Alternative transcript annotations:

Transcript	cDNA	Protein	Consequence	Exon	Intron
ENST00000252444.5	c.973G>A	p.Glu325Lys	missense_variant	5/18	-
ENST00000455727.2	c.314-804G>A	-	intron_variant	-	3/15
ENST00000535915.1	c.595G>A	p.Glu199Lys	missense_variant	4/17	-
ENST00000545707.1	c.337G>A	p.Glu113Lys	missense_variant	4/16	-
ENST00000557933.1	c.718G>A	p.Glu240Lys	missense_variant	5/18	-
ENST00000558013.1	c.718G>A	p.Glu240Lys	missense_variant	5/18	-
ENST00000558518.1	c.718G>A	p.Glu240Lys	missense_variant	5/18	-
ENST00000558528.1	n.233G>A	-	non_coding_transcript_exon_variant	1/2	-
ENST00000560467.1	c.319G>A	p.Glu107Lys	missense_variant	2/6	-
NM_000527.5	c.718G>A	p.Glu240Lys	missense_variant	5/18	-
NM_001195798.2	c.718G>A	p.Glu240Lys	missense_variant	5/18	-
NM_001195799.2	c.595G>A	p.Glu199Lys	missense_variant	4/17	-
NM_001195800.2	c.314-804G>A	-	intron_variant	-	3/15
NM_001195803.2	c.337G>A	p.Glu113Lys	missense_variant	4/16	-