Varaico: Literature-Extracted Genetic Variants

Gene:PKHD1L1
Variant:p.L2169_D2170Splc
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PKHD1L1

NM_177531.6:p.L2169_D2170Splc

Associated Papers

Plasma Metabolic Outliers Identified in Estonian Human Knockouts.

Yu K et al.

Metabolites, 2025

40422899 (PubMed )
Supplement: metabolites-15-00323-s001.zip › TableS2.xlsx › TableSY

Human knockouts and phenotypic analysis in a cohort with a high rate of consanguinity.

Saleheen D et al.

Nature, 2017

28406212 (PubMed )
Supplement: NIHMS857566-supplement-Suppl__Table_1.xlsx › Supplementary_Table_1

The New Immortalized Uroepithelial Cell Line HBLAK Contains Defined Genetic Aberrations Typical of Early Stage Urothelial Tumors.

Hoffmann MJ et al.

Bladder Cancer (amsterdam, Netherlands), 2016

28035326 (PubMed )
Supplement: blc-2-blc160065-s001.xlsx › 2_HBLAK_relevant_SNPs
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