Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.Q147E
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HNF1B

NM_000458.4:p.Q147E

Associated Papers

MODY5 and 17q12 Microdeletion Syndrome: Phenotype Variability, Prenatal and Postnatal Counseling.

Fontana P et al.

Genes, 2025

Genotype and Phenotype Analyses in Pediatric Patients with HNF1B Mutations.

Lim SH et al.

Journal of Clinical Medicine, 2020

Targeted Exome Sequencing Provided Comprehensive Genetic Diagnosis of Congenital Anomalies of the Kidney and Urinary Tract.

Ahn YH et al.

Journal of Clinical Medicine, 2020

32164334 (PubMed )
Supplement: jcm-09-00751-s001.pdf
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