Varaico: Literature-Extracted Genetic Variants

Gene:ATP12A
Variant:p.D334Y
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ATP12A

NM_001676.7:p.D334Y

Associated Papers

Prenatal diagnosis of congenital chloride diarrhea by whole exome sequencing in four Chinese families and prenatal genotype-phenotype association study.

Shao YF et al.

World Journal of Pediatrics : Wjp, 2023

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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."