Varaico: Literature-Extracted Genetic Variants

Gene:PTF1A
Variant:p.R262Splc
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PTF1A

NM_178161.3:p.R262Splc

Associated Papers

Clinical characteristics, growth patterns, and long-term diabetes complications of 24 patients with neonatal diabetes mellitus: A single center experience.

Mouler M et al.

Pediatric Diabetes, 2022

A Specific CNOT1 Mutation Results in a Novel Syndrome of Pancreatic Agenesis and Holoprosencephaly through Impaired Pancreatic and Neurological Development.

De Franco E et al.

American Journal of Human Genetics, 2019

31006513 (PubMed )
Supplement: mmc1.pdf

Analysis of transcription factors key for mouse pancreatic development establishes NKX2-2 and MNX1 mutations as causes of neonatal diabetes in man.

Flanagan SE et al.

Cell Metabolism, 2014

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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."