BBS2 c.1852_1910del ;(p.S618Efs*12)

Variant ID: 16-56530879-CATGTCCCTCATCAGACGAGCATCCTCAGCTCCGACCAGCAAACTTCGGATCAAATTAGA-C

NM_031885.3(BBS2):c.1852_1910del;(p.S618Efs*12)

This variant was identified in 1 publication

View GRCh38 version.




Publications:


Characterizing the morbid genome of ciliopathies.

Genome Biology
Shaheen, Ranad R; Szymanska, Katarzyna K; Basu, Basudha B; Patel, Nisha N; Ewida, Nour N; Faqeih, Eissa E; Al Hashem, Amal A; Derar, Nada N; Alsharif, Hadeel H; Aldahmesh, Mohammed A MA; Alazami, Anas M AM; Hashem, Mais M; Ibrahim, Niema N; Abdulwahab, Firdous M FM; Sonbul, Rawda R; Alkuraya, Hisham H; Alnemer, Maha M; Al Tala, Saeed S; Al-Husain, Muneera M; Morsy, Heba H; Seidahmed, Mohammed Zain MZ; Meriki, Neama N; Al-Owain, Mohammed M; AlShahwan, Saad S; Tabarki, Brahim B; Salih, Mustafa A MA; , ; Faquih, Tariq T; El-Kalioby, Mohamed M; Ueffing, Marius M; Boldt, Karsten K; Logan, Clare V CV; Parry, David A DA; Al Tassan, Nada N; Monies, Dorota D; Megarbane, Andre A; Abouelhoda, Mohamed M; Halees, Anason A; Johnson, Colin A CA; Alkuraya, Fowzan S FS
Publication Date: 2016-11-28

Variant appearance in text: BBS: 805_1910del
PubMed Link: 27894351
Variant Present in the following documents:
  • Main text
  • 13059_2016_1099_MOESM2_ESM.xlsx, sheet 1
  • 13059_2016_Article_1099.pdf
View BVdb publication page