PIK3CB c.-122+16515C>A

Variant ID: 3-138537022-G-T

NM_006219.3(PIK3CB):c.-122+16515C>A

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Deletions involving long-range conserved nongenic sequences upstream and downstream of FOXL2 as a novel disease-causing mechanism in blepharophimosis syndrome.

American Journal Of Human Genetics
Beysen, D D; Raes, J J; Leroy, B P BP; Lucassen, A A; Yates, J R W JR; Clayton-Smith, J J; Ilyina, H H; Brooks, S Sklower SS; Christin-Maitre, S S; Fellous, M M; Fryns, J P JP; Kim, J R JR; Lapunzina, P P; Lemyre, E E; Meire, F F; Messiaen, L M LM; Oley, C C; Splitt, M M; Thomson, J J; Van de Peer, Y Y; Veitia, R A RA; De Paepe, A A; De Baere, E E
Publication Date: 2005-08

Variant appearance in text: rs6784610
PubMed Link: 15962237
Variant Present in the following documents:
  • Main text
View BVdb publication page