Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.T458insFs
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BBS12

NM_152618.3:p.T458insFs

Associated Papers

Comprehensive analysis of NGS-based expanded carrier screening and follow-up in southern and southwestern China: results from 3024 Chinese individuals.

Huang Q et al.

Human Genomics, 2024

39380106 (PubMed )
Supplement: 40246_2024_680_MOESM1_ESM.xlsx › Supplementary_Table_3

Whole genome sequencing vs chromosomal microarray analysis in prenatal diagnosis.

Hu P et al.

American Journal of Obstetrics and Gynecology, 2023

Bardet-Biedl syndrome associated with novel compound heterozygous variants in BBS12 gene.

Morohashi T et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2023

[Prenatal diagnosis of fetuses with renal anomalies by whole genome sequencing].

Qiao F et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 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."