Varaico: Literature-Extracted Genetic Variants

Gene:BBS12
Variant:p.S21_F22del1
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BBS12

NM_152618.3:p.S21_F22del1

Associated Papers

Early Second Trimester Diagnosis of Bardet-Biedel in a Fetus With a Novel In-Frame Deletion Variant in BBS12 Gene: The Phenotype Informs the Genotype.

Olivieri C et al.

Prenatal Diagnosis, 2025

CKD in Bardet-Biedl Syndrome: Evidence Supporting Multifactorial Etiology.

Zacchia M et al.

Kidney International Reports, 2025

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