BBS7 c.160del ;(p.A54Qfs*97)

Variant ID: 4-122784377-GC-G

NM_176824.2(BBS7):c.160del;(p.A54Qfs*97)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Developing Non-Human Primate Models of Inherited Retinal Diseases.

Genes
Seah, Ivan I; Goh, Debbie D; Chan, Hwei Wuen HW; Su, Xinyi X
Publication Date: 2022-02-14

Variant appearance in text: BBS7: 160delG; Ala54fs
PubMed Link: 35205388
Variant Present in the following documents:
  • Main text
  • genes-13-00344.pdf
View BVdb publication page



Bardet-Biedl Syndrome in rhesus macaques: A nonhuman primate model of retinitis pigmentosa.

Experimental Eye Research
Peterson, Samuel M SM; McGill, Trevor J TJ; Puthussery, Teresa T; Stoddard, Jonathan J; Renner, Lauren L; Lewis, Anne D AD; Colgin, Lois M A LMA; Gayet, Jacqueline J; Wang, Xiaojie X; Prongay, Kamm K; Cullin, Cassandra C; Dozier, Brandy L BL; Ferguson, Betsy B; Neuringer, Martha M
Publication Date: 2019-12

Variant appearance in text: BBS7: 160delG
PubMed Link: 31589838
Variant Present in the following documents:
  • Main text
View BVdb publication page