LDLRAP1 c.143T>C ;(p.F48S)

Variant ID: 1-25880467-T-C

NM_015627.2(LDLRAP1):c.143T>C;(p.F48S)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Monitoring of up to 15 years effects of lipoprotein apheresis on lipids, biomarkers of inflammation, and soluble endoglin in familial hypercholesterolemia patients.

Orphanet Journal Of Rare Diseases
Víšek, J J; Bláha, M M; Bláha, V V; Lášticová, M M; Lánska, M M; Andrýs, C C; Tebbens, J Duintjer JD; Igreja E Sá, Ivone Cristina IC; Tripská, K K; Vicen, M M; Najmanová, I I; Nachtigal, P P
Publication Date: 2021-02-27

Variant appearance in text: ARH: Phe48Ser
PubMed Link: 33640001
Variant Present in the following documents:
  • Main text
  • 13023_2021_Article_1749.pdf
View BVdb publication page