Varaico: Literature-Extracted Genetic Variants

Gene:PDX1
Variant:p.M1V
Back to variants list

PDX1

NM_000209.4:p.M1V

Associated Papers

Widening the phenotypic spectrum caused by pathogenic PDX1 variants in individuals with neonatal diabetes.

Jeffery N et al.

Bmj Open Diabetes Research & Care, 2024

39542526 (PubMed )
Supplement: bmjdrc-12-6-s001.pdf

Neonatal and early-onset diabetes in Ukraine: Atypical features and mortality.

Globa E et al.

Diabetic Medicine : a Journal of the British Diabetic Association, 2023

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

Genomic Profiling of Patient-Derived Xenografts for Lung Cancer Identifies B2M Inactivation Impairing Immunorecognition.

Pereira C et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2017

28302866 (PubMed )
Supplement: 10780432ccr161946t-sup-169990_2_supp_3753023_rh1cjx.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."