LRP4 c.1348A>G ;(p.I450V)

Variant ID: 11-46916332-T-C

NM_002334.3(LRP4):c.1348A>G;(p.I450V)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Recent Advances in Syndactyly: Basis, Current Status and Future Perspectives.

Genes
Zaib, Tahir T; Rashid, Hibba H; Khan, Hanif H; Zhou, Xiaoling X; Sun, Pingnan P
Publication Date: 2022-04-27

Variant appearance in text: LRP4: 1348A>G; I450V
PubMed Link: 35627156
Variant Present in the following documents:
  • Main text
  • genes-13-00771.pdf
View BVdb publication page



Cenani-Lenz syndactyly syndrome - a case report of a family with isolated syndactyly.

Bmc Medical Genetics
Hettiaracchchi, Dineshani D; Bonnard, Carine C; Jayawardana, S M A SMA; Ng, Alvin Yu Jin AYJ; Tohari, Sumanty S; Venkatesh, Byrappa B; Reversade, Bruno B; Singaraja, Roshni R; Dissanayake, V H W VHW
Publication Date: 2018-07-24

Variant appearance in text: LRP4: 1348A>G; I450V
PubMed Link: 30041615
Variant Present in the following documents:
  • Main text
  • 12881_2018_Article_646.pdf
  • 12881_2018_646_MOESM1_ESM.xlsx, sheet 1
  • 12881_2018_646_MOESM1_ESM.xlsx, sheet 3
  • 12881_2018_646_MOESM1_ESM.xlsx, sheet 2
  • 12881_2018_646_MOESM1_ESM.xlsx, sheet 4
View BVdb publication page