LDLR c.344_345delinsAA ;(p.R115Q)

Variant ID: 19-11215926-GC-AA

NM_000527.4(LDLR):c.344_345delinsAA;(p.R115Q)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Mutational analysis of sclerostin shows importance of the flexible loop and the cystine-knot for Wnt-signaling inhibition.

Plos One
Boschert, Verena V; van Dinther, Maarten M; Weidauer, Stella S; van Pee, Katharina K; Muth, Eva-Maria EM; Ten Dijke, Peter P; Mueller, Thomas D TD
Publication Date: 2013

Variant appearance in text: LDLR: R115Q
PubMed Link: 24312339
Variant Present in the following documents:
  • Main text
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