Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.C1561Y
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PKHD1

NM_138694.4:p.C1561Y

Associated Papers

Clinical application of prospective whole-exome sequencing in the diagnosis of genetic disease: Experience of a regional disease center in South Korea.

Lee JY et al.

Annals of Human Genetics, 2024

Imaging manifestations of Caroli disease with autosomal recessive polycystic kidney disease: a case report and literature review.

Yao X et al.

Bmc Pregnancy and Childbirth, 2021

The GenomeAsia 100K Project enables genetic discoveries across Asia.

Unknown Author

Nature, 2019

31802016 (PubMed )
Supplement: 41586_2019_1793_MOESM3_ESM.xlsx › S4a_-_Prenatal_screening
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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."