Varaico: Literature-Extracted Genetic Variants

Gene:GATA6
Variant:p.C468Y
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GATA6

NM_005257.6:p.C468Y

Associated Papers

Novel pathogenic GATA6 variant associated with congenital heart disease, diabetes mellitus and necrotizing enterocolitis.

Yasuhara J et al.

Pediatric Research, 2024

A Cardiocraniofacial Syndrome Associated With a Novel Missense Variant in GATA6: A Fetal Case Report.

Darouich S et al.

Pediatric and Developmental Pathology : the Official Journal of the Society for Pediatric Pathology and the Paediatric Pathology Society, 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."