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LDLR c.2332_2333inv ;(p.R778L)
Variant ID: 19-11238704-AG-CT
NM_000527.4(
LDLR
):c.2332_2333inv;(p.R778L)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Inborn errors of metabolism: Lessons from iPSC models.
Reviews In Endocrine & Metabolic Disorders
Escribá, Rubén R; Ferrer-Lorente, Raquel R; Raya, Ángel Á
Publication Date: 2021-12
Variant appearance in text: LDLR: R778L
PubMed Link:
34241766
Variant Present in the following documents:
11154_2021_9671_MOESM1_ESM.pdf
View BVdb publication page
Using CRISPR/Cas9 to model human liver disease.
Jhep Reports : Innovation In Hepatology
Alves-Bezerra, Michele M; Furey, Nika N; Johnson, Collin G CG; Bissig, Karl-Dimiter KD
Publication Date: 2019-11
Variant appearance in text: LDLR: Arg778Leu
PubMed Link:
32039390
Variant Present in the following documents:
Main text
main.pdf
View BVdb publication page
iPSC-Derived Hepatocytes as a Platform for Disease Modeling and Drug Discovery.
Frontiers In Medicine
Corbett, James L JL; Duncan, Stephen A SA
Publication Date: 2019
Variant appearance in text: LDLR: R778L
PubMed Link:
31803747
Variant Present in the following documents:
Main text
View BVdb publication page