BBS1 branchpoint variant is associated with non-syndromic retinitis pigmentosa
Putative severe branchpoint variant in BBS1, together with a mild missense variant, underlies non-syndromic RP in four unrelated individuals
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Aug 30, 2015
Apparent Usher Syndrome Caused by the Combination of BBS1-Associated Retinitis Pigmentosa and SLC26A4-Associated Deafness
The clinical features of a known mendelian disease can occasionally be mimicked by the random co-occurrence of 2 different . . .
Mar 18, 2010
Identification and Functional Analysis of the Vision-Specific BBS3 (ARL6) Long Isoform
In this study we utilized two model systems, the zebrafish and mouse, to evaluate the function of a specific form of BBS (BBS3).
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