F8 c.787+3del

Variant ID: X-154212959-AT-A

NM_000132.3(F8):c.787+3del

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy (ALDH7A1 deficiency).

Brain : A Journal Of Neurology
Mills, Philippa B PB; Footitt, Emma J EJ; Mills, Kevin A KA; Tuschl, Karin K; Aylett, Sarah S; Varadkar, Sophia S; Hemingway, Cheryl C; Marlow, Neil N; Rennie, Janet J; Baxter, Peter P; Dulac, Olivier O; Nabbout, Rima R; Craigen, William J WJ; Schmitt, Bernhard B; Feillet, François F; Christensen, Ernst E; De Lonlay, Pascale P; Pike, Mike G MG; Hughes, M Imelda MI; Struys, Eduard A EA; Jakobs, Cornelis C; Zuberi, Sameer M SM; Clayton, Peter T PT
Publication Date: 2010-07

Variant appearance in text: F8: 787+3delA
PubMed Link: 20554659
Variant Present in the following documents:
  • Main text
  • awq143.pdf
View BVdb publication page