Varaico: Literature-Extracted Genetic Variants

Gene:ZFP57
Variant:p.C241*
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ZFP57

NM_001109809.5:p.C241*

Associated Papers

Transient neonatal diabetes mellitus and hypomethylation at additional imprinted loci: novel ZFP57 mutation and review on the literature.

Touati A et al.

Acta Diabetologica, 2019

Beckwith-Wiedemann syndrome and pseudohypoparathyroidism type Ib in a patient with multilocus imprinting disturbance: a female-dominant phenomenon?

Sano S et al.

Journal of Human Genetics, 2016

Genome-wide DNA methylation analysis of transient neonatal diabetes type 1 patients with mutations in ZFP57.

Bak M et al.

Bmc Medical Genetics, 2016

Transient neonatal diabetes, ZFP57, and hypomethylation of multiple imprinted loci: a detailed follow-up.

Boonen SE et al.

Diabetes Care, 2013

23150280 (PubMed )
Supplement: supp_dc12-0700v120700_DC120700SupplementaryData.pdf

Hypomethylation of multiple imprinted loci in individuals with transient neonatal diabetes is associated with mutations in ZFP57.

Mackay DJ et al.

Nature Genetics, 2008

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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."