Varaico: Literature-Extracted Genetic Variants

Gene:BBS1
Variant:p.M423_L425delFs
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BBS1

NM_024649.5:p.M423_L425delFs

Associated Papers

Ultrasound evaluation of kidney and liver involvement in Bardet-Biedl syndrome.

Cetiner M et al.

Orphanet Journal of Rare Diseases, 2024

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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."