Bardet-Biedl syndrome 1 [Homo sapiens]

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Recurrence of a BBS1 variant in Bardet-Biedl patients from Prince Edward Island. [Clin Genet. 2023]
Recurrence of a BBS1 variant in Bardet-Biedl patients from Prince Edward Island.
Alghaith FA, MacKay S, Wallace K, Locke J, Robitaille JM, Dyack S, Arts HH. Clin Genet. 2023 Dec; 104(6):713-715. Epub 2023 Aug 23.
The Bardet-Biedl syndrome complex component BBS1 controls T cell polarity during immune synapse assembly. [J Cell Sci. 2021]
The Bardet-Biedl syndrome complex component BBS1 controls T cell polarity during immune synapse assembly.
Cassioli C, Onnis A, Finetti F, Capitani N, Brunetti J, Compeer EB, Niederlova V, Stepanek O, Dustin ML, Baldari CT. J Cell Sci. 2021 Aug 15; 134(16). Epub 2021 Aug 23.
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa. [J Med Genet. 2022]
BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa.
Fadaie Z, Whelan L, Dockery A, Li CHZ, van den Born LI, Hoyng CB, Gilissen C, Corominas J, Rowlands C, Megaw R, et al. J Med Genet. 2022 May; 59(5):438-444. Epub 2021 Apr 28.

RefSeq genomic sequence
See the genomic reference sequence for the BBS1 gene (NG_009093.1).
RefSeq protein
See the reference protein sequence for BBSome complex member BBS1 (NP_078925.3).

Nucleotide
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Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

Bardet-Biedl syndrome 1 [Homo sapiens]
Bardet-Biedl syndrome 1 [Homo sapiens]
gi|80474986|gb|AAI09065.1|

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Protein