Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.T63delFs
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BBS12

NM_152618.3:p.T63delFs

Associated Papers

A Case Report of Giant Congenital Melanocytic Nevus Complicated by Minimal Change Disease, With Genetic Analysis.

Yu G et al.

Clinical Case Reports, 2025

Rare damaging variants in the sex differences of congenital heart disease: an exome sequencing study.

Sun H et al.

Ebiomedicine, 2025

40347836 (PubMed )
Supplement: mmc3.xlsx › Supplementary_Table_7

Preimplantation genetic testing for monogenic disorders (PGT-M) for monogenic nephropathy: a single-center retrospective cohort analysis.

Liu X et al.

Clinical Kidney Journal, 2025

39802589 (PubMed )
Supplement: sfae356_supplemental_file.pdf

Diagnosis and genetic analysis of a case with Bardet-Biedl syndrome caused by compound heterozygous mutations in the BBS12 gene.

Shen YT et al.

Yi Chuan = Hereditas, 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."