Varaico: Literature-Extracted Genetic Variants

Gene:BBS1
Variant:p.G379R
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BBS1

NM_024649.5:p.G379R

Associated Papers

BBS Proteins Affect Ciliogenesis and Are Essential for Hedgehog Signaling, but Not for Formation of iPSC-Derived RPE-65 Expressing RPE-Like Cells.

Hey CAB et al.

International Journal of Molecular Sciences, 2021

Generation of induced pluripotent stem cells, KCi001-A derived from a Bardet-Biedl syndrome patient compound heterozygous for the BBS1 variants c.1169T>G/c.1135G>C.

Hey CAB et al.

Stem Cell Research, 2018

[The first Danish patient with a recognisable genetic KBG syndrome].

Bayat A et al.

Ugeskrift for Laeger, 2018

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."