LPL c.901del ;(p.L301Sfs*3)

Variant ID: 8-19813477-GC-G

NM_000237.2(LPL):c.901del;(p.L301Sfs*3)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.

Journal Of Internal Medicine
Surendran, R P RP; Visser, M E ME; Heemelaar, S S; Wang, J J; Peter, J J; Defesche, J C JC; Kuivenhoven, J A JA; Hosseini, M M; Péterfy, M M; Kastelein, J J P JJ; Johansen, C T CT; Hegele, R A RA; Stroes, E S G ES; Dallinga-Thie, G M GM
Publication Date: 2012-08

Variant appearance in text: LPL: 901del; Leu301SerfsX3
PubMed Link: 22239554
Variant Present in the following documents:
  • Main text
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