Varaico: Literature-Extracted Genetic Variants

Gene:HNF1B
Variant:p.V25L
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HNF1B

NM_000458.4:p.V25L

Associated Papers

Monogenic diabetes variants in Emirati women with gestational diabetes are associated with risk of non-autoimmune diabetes within 5 years after pregnancy.

Daggag H et al.

Metabolism Open, 2022

Deciphering the mutation spectrum in south Indian children with congenital anomalies of the kidney and urinary tract.

Narikot A et al.

Bmc Nephrology, 2022

34979951 (PubMed )
Supplement: 12882_2021_2628_MOESM2_ESM.xlsx › Table_S4

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 1696.600

Diagnosis, management, and prognosis of HNF1B nephropathy in adulthood.

Faguer S et al.

Kidney International, 2011

Analysis of the coding genome of diffuse large B-cell lymphoma.

Pasqualucci L et al.

Nature Genetics, 2011

21804550 (PubMed )
Supplement: NIHMS308546-supplement-1.pdf

Renal malformations associated with mutations of developmental genes: messages from the clinic.

Adalat S et al.

Pediatric Nephrology (berlin, Germany), 2010

HNF1B mutations associate with hypomagnesemia and renal magnesium wasting.

Adalat S et al.

Journal of the American Society of Nephrology : Jasn, 2009

Mutations in the genes encoding the transcription factors hepatocyte nuclear factor 1 alpha (HNF1A) and 4 alpha (HNF4A) in maturity-onset diabetes of the young.

Ellard S et al.

Human Mutation, 2006

Mutations in hepatocyte nuclear factor-1beta and their related phenotypes.

Edghill EL et al.

Journal of Medical Genetics, 2006

Neonatal cholestasis.

Arora NK

Tropical Gastroenterology : Official Journal of the Digestive Diseases Foundation, 0

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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."