LRP4 c.2552C>G ;(p.T851R)

Variant ID: 11-46905482-G-C

NM_002334.3(LRP4):c.2552C>G;(p.T851R)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Exome sequencing of two Italian pedigrees with non-isolated Chiari malformation type I reveals candidate genes for cranio-facial development.

European Journal Of Human Genetics : Ejhg
Merello, Elisa E; Tattini, Lorenzo L; Magi, Alberto A; Accogli, Andrea A; Piatelli, Gianluca G; Pavanello, Marco M; Tortora, Domenico D; Cama, Armando A; Kibar, Zoha Z; Capra, Valeria V; De Marco, Patrizia P
Publication Date: 2017-08

Variant appearance in text: LRP4: 2552C>G; T851R
PubMed Link: 28513615
Variant Present in the following documents:
  • Main text
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