Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.R2979*
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PKHD1

NM_138694.4:p.R2979*

Associated Papers

Opportunistic genomic screening has clinical utility: An interventional cohort study.

Mighton C et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

Comprehensive genetic testing in children with a clinical diagnosis of ARPKD identifies phenocopies.

Szabó T et al.

Pediatric Nephrology (berlin, Germany), 2018

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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."