BBS2 c.2T>A ;(p.M1?)

Variant ID: 16-56553773-A-T

NM_031885.3(BBS2):c.2T>A;(p.M1?)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Genetic and clinical characterization of Pakistani families with Bardet-Biedl syndrome extends the genetic and phenotypic spectrum.

Scientific Reports
Maria, Maleeha M; Lamers, Ideke J C IJ; Schmidts, Miriam M; Ajmal, Muhammad M; Jaffar, Sulman S; Ullah, Ehsan E; Mustafa, Bilal B; Ahmad, Shakeel S; Nazmutdinova, Katia K; Hoskins, Bethan B; van Wijk, Erwin E; Koster-Kamphuis, Linda L; Khan, Muhammad Imran MI; Beales, Phil L PL; Cremers, Frans P M FP; Roepman, Ronald R; Azam, Maleeha M; Arts, Heleen H HH; Qamar, Raheel R
Publication Date: 2016-10-06

Variant appearance in text: BBS: 2T>A
PubMed Link: 27708425
Variant Present in the following documents:
  • srep34764-s1.pdf
View BVdb publication page



The molecular basis of retinal dystrophies in pakistan.

Genes
Khan, Muhammad Imran MI; Azam, Maleeha M; Ajmal, Muhammad M; Collin, Rob W J RW; den Hollander, Anneke I AI; Cremers, Frans P M FP; Qamar, Raheel R
Publication Date: 2014-03-11

Variant appearance in text: BBS: 2T>A
PubMed Link: 24705292
Variant Present in the following documents:
  • Main text
  • genes-05-00176.pdf
View BVdb publication page