Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1
Variant:p.D822N
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PKHD1

NM_138694.4:p.D822N

Associated Papers

Mosaic variants of neurodevelopmental and mitochondrial genes in postmortem paraventricular thalamus in bipolar disorder detected by deep exome sequencing.

Nishioka M et al.

Psychiatry and Clinical Neurosciences, 2025

40693979 (PubMed )
Supplement: PCN-79-653-s001.xlsx › Table_S4

Unravelling the role of PLK1 in tumorigenesis by revealing the mutational landscape of colorectal and lung cancer with PLK1 mutations.

Wang S et al.

Journal of Cellular and Molecular Medicine, 2024

38887977 (PubMed )
Supplement: JCMM-28-e18497-s004.xlsx › Sheet1

Recurrent PDGFRB mutations in unicentric Castleman disease.

Li Z et al.

Leukemia, 2019

30607019 (PubMed )
Supplement: 41375_2018_323_MOESM5_ESM.xls › Table_S2
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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."