Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.G333V
Back to variants list

HNF1B

NM_000458.4:p.G333V

Associated Papers

Rare Single Nucleotide and Copy Number Variants and the Etiology of Congenital Obstructive Uropathy: Implications for Genetic Diagnosis.

Ahram DF et al.

Journal of the American Society of Nephrology : Jasn, 2023

Mutations in 12 known dominant disease-causing genes clarify many congenital anomalies of the kidney and urinary tract.

Hwang DY et al.

Kidney International, 2014

24429398 (PubMed )
Supplement: NIHMS543078-supplement-supplement_1.pdf
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."