Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.R27G
Back to variants list

BBS12

NM_152618.3:p.R27G

Associated Papers

Identifying infrequent genetic changes in monozygotic twins afflicted with hypospadias via targeted panel sequencing.

Kim JH et al.

Investigative and Clinical Urology, 2024

Whole-Exome Sequencing Reveals Rare Germline Mutations in Patients With Hemifacial Microsomia.

Chen X et al.

Frontiers in Genetics, 2021

34079577 (PubMed )
Supplement: Table_1.XLSX › Supplementary_table_1
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."