Varaico: Literature-Extracted Genetic Variants

Gene:PDCL3
Variant:p.C127Y
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PDCL3

NM_024065.5:p.C127Y

Associated Papers

Exploring the complexities of megacystis-microcolon-intestinal hypoperistalsis syndrome: insights from genetic studies.

Devavarapu PKV et al.

Clinical Journal of Gastroenterology, 2024

Fetal megacystis-microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene.

Billon C et al.

Clinical Genetics, 2020

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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."