Varaico: Literature-Extracted Genetic Variants

Gene:ARL6
Variant:p.S62Splc
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ARL6

NM_001278293.3:p.S62Splc

Associated Papers

Identification of 11 novel mutations in eight BBS genes by high-resolution homozygosity mapping.

Harville HM et al.

Journal of Medical Genetics, 2010

BBS4 is a minor contributor to Bardet-Biedl syndrome and may also participate in triallelic inheritance.

Katsanis N et al.

American Journal of Human Genetics, 2002

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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."