Varaico: Literature-Extracted Genetic Variants

Gene:BBS4
Variant:p.A74Splc
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BBS4

NM_033028.5:p.A74Splc

Associated Papers

Kidney failure in Bardet-Biedl syndrome.

Meyer JR et al.

Clinical Genetics, 2022

RAPIDOMICS: rapid genome-wide sequencing in a neonatal intensive care unit-successes and challenges.

Elliott AM et al.

European Journal of Pediatrics, 2019

BBS mutational analysis: a strategic approach.

Billingsley G et al.

Ophthalmic Genetics, 2011

21463199 (PubMed )
Supplement: supplement_1.pdf

Identification of the gene that, when mutated, causes the human obesity syndrome BBS4.

Mykytyn K et al.

Nature Genetics, 2001

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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."