LRP1 c.2076T>G ;(p.F692L)

Variant ID: 12-57554772-T-G

NM_002332.2(LRP1):c.2076T>G;(p.F692L)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


LZTR1 molecular genetic overlap with clinical implications for Noonan syndrome and schwannomatosis.

Bmc Medical Genomics
Farncombe, Kirsten M KM; Thain, Emily E; Barnett-Tapia, Carolina C; Sadeghian, Hamid H; Kim, Raymond H RH
Publication Date: 2022-07-15

Variant appearance in text: LRP1: Phe692Leu
PubMed Link: 35840934
Variant Present in the following documents:
  • Main text
  • 12920_2022_Article_1304.pdf
View BVdb publication page