Varaico: Literature-Extracted Genetic Variants

Gene:PDZD2
Variant:p.R2395H
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PDZD2

NM_178140.4:p.R2395H

Associated Papers

Whole-Genome DNA Methylation Profiling of Intrahepatic Cholangiocarcinoma Reveals Prognostic Subtypes with Distinct Biological Drivers.

Liao H et al.

Cancer Research, 2024

38471085 (PubMed )
Supplement: can-23-3298_supplementary_tables_suppst1-11.xlsx › Supplementary_Table_S8

Cutaneous and hepatic vascular lesions due to a recurrent somatic GJA4 mutation reveal a pathway for vascular malformation.

Ugwu N et al.

Hgg Advances, 2021

33912852 (PubMed )
Supplement: mmc2.xlsx › Sheet1
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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."