Varaico: Literature-Extracted Genetic Variants

Gene:HCLS1
Variant:p.E388K
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HCLS1

NM_005335.6:p.E388K

Associated Papers

ACE-Dependent Alzheimer's Disease: Blood ACE Phenotyping of the Most Prevalent and Damaging ACE Missense Mutation-Y215C (rs3730025).

Buianova AA et al.

Biomedicines, 2026

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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