Varaico: Literature-Extracted Genetic Variants

Gene:HYKK
Variant:p.R312L
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HYKK

NM_001013619.4:p.R312L

Associated Papers

Identification of PCSK9-like human gene knockouts using metabolomics, proteomics, and whole-genome sequencing in a consanguineous population.

Belkadi A et al.

Cell Genomics, 2023

36777185 (PubMed )
Supplement: mmc6.xlsx › Table_S5

Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites.

Long T et al.

Nature Genetics, 2017

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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