Associated Papers
WGS Revealed Novel BBS5 Pathogenic Variants, Missed by WES, Causing Ciliary Structure and Function Defects.
Karam A et al.
International Journal of Molecular Sciences, 2023
37240074 (PubMed )
Supplement: ijms-24-08729-s001.zip › ijms-2349422-supplementary.pdf
In search of triallelism in Bardet-Biedl syndrome.
Abu-Safieh L et al.
European Journal of Human Genetics : Ejhg, 2012
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