Varaico: Literature-Extracted Genetic Variants

Gene:GATA6
Variant:p.V434_P435Splc
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GATA6

NM_005257.6:p.V434_P435Splc

Associated Papers

Genetic variant profiling of neonatal diabetes mellitus in Iranian patients: Unveiling 58 distinct variants in 14 genes.

Mianesaz H et al.

Journal of Diabetes Investigation, 2024

38970407 (PubMed )
Supplement: JDI-15-1390-s002.xlsx › PNDM

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
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