Varaico: Literature-Extracted Genetic Variants

Gene:BBS1
Variant:p.R393*
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BBS1

NM_024649.5:p.R393*

Associated Papers

Etiology and outcomes of fetal renal abnormalities in Southern China: a single-tertiary-center study.

Cai M et al.

Orphanet Journal of Rare Diseases, 2025

Classifying and evaluating fetuses with multicystic dysplastic kidney in etiologic studies.

Cai M et al.

Experimental Biology and Medicine (maywood, N.j.), 2023

Analysis of clinically relevant variants from ancestrally diverse Asian genomes.

Chan SH et al.

Nature Communications, 2022

36335097 (PubMed )
Supplement: 41467_2022_34116_MOESM4_ESM.zip › NCOMMS-22-14716A_SupplementaryData › NCOMM-22-14716A_SupplementaryData_2.xlsx › SuppData_2

Novel homozygous nonsense mutation associated with Bardet-Biedl syndrome in fetuses with congenital renal malformation.

Cai M et al.

Medicine, 2022

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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."