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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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