Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.Y1364C
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PKHD1

NM_138694.4:p.Y1364C

Associated Papers

Next-Generation Sequencing Defines a Molecularly Confirmed ARPKD Core Within the Broader PKHD1-Associated Disease Spectrum.

Lapunzina-Soler P et al.

Genes, 2026

Genetic Alterations in Essential Thrombocythemia Progression to Acute Myeloid Leukemia: A Case Series and Review of the Literature.

Ayres-Silva JP et al.

Frontiers in Oncology, 2018

29515972 (PubMed )
Supplement: table_1.xlsx › suppl_table_1
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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."