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.




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