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