Varaico: Literature-Extracted Genetic Variants

Gene:BBS9
Variant:p.K85fs
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BBS9

NM_198428.3:p.K85fs

Associated Papers

Whole Genome Sequencing Solves an Atypical Form of Bardet-Biedl Syndrome: Identification of Novel Pathogenic Variants of BBS9.

Stellacci E et al.

International Journal of Molecular Sciences, 2024

39125883 (PubMed )
Supplement: ijms-25-08313-s001.zip › Supplemental_Table_2_clinical_review.xlsx › BBS9_clinical_table
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