CELSR2 c.8185G>C ;(p.D2729H)

Variant ID: 1-109815496-G-C

NM_001408.2(CELSR2):c.8185G>C;(p.D2729H)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Whole exome sequencing reveals inherited and de novo variants in autism spectrum disorder: a trio study from Saudi families.

Scientific Reports
Al-Mubarak, Bashayer B; Abouelhoda, Mohamed M; Omar, Aisha A; AlDhalaan, Hesham H; Aldosari, Mohammed M; Nester, Michael M; Alshamrani, Hussain A HA; El-Kalioby, Mohamed M; Goljan, Ewa E; Albar, Renad R; Subhani, Shazia S; Tahir, Asma A; Asfahani, Sultana S; Eskandrani, Alaa A; Almusaiab, Ahmed A; Magrashi, Amna A; Shinwari, Jameela J; Monies, Dorota D; Al Tassan, Nada N
Publication Date: 2017-07-18

Variant appearance in text: CELSR2: D2729H
PubMed Link: 28720891
Variant Present in the following documents:
  • Main text
  • 41598_2017_6033_MOESM1_ESM.pdf
  • 41598_2017_Article_6033.pdf
View BVdb publication page