LDLR c.1202T>C ;(p.L401P)

Variant ID: 19-11223969-T-C

NM_000527.4(LDLR):c.1202T>C;(p.L401P)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports
Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA
Publication Date: 2020-09-21

Variant appearance in text: LDLR: L401P
PubMed Link: 32958805
Variant Present in the following documents:
  • 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2
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Low-density lipoprotein receptor mutations generate synthetic genome-wide associations.

European Journal Of Human Genetics : Ejhg
Oosterveer, Daniëlla M DM; Versmissen, Jorie J; Defesche, Joep C JC; Sivapalaratnam, Suthesh S; Yazdanpanah, Mojgan M; Mulder, Monique M; van der Zee, Leonie L; Uitterlinden, André G AG; van Duijn, Cornelia M CM; Hofman, Albert A; Kastelein, John J P JJ; Aulchenko, Yurii S YS; Sijbrands, Eric J G EJ
Publication Date: 2013-05

Variant appearance in text: LDLR: L401P
PubMed Link: 22968135
Variant Present in the following documents:
  • Main text
View BVdb publication page