Varaico: Literature-Extracted Genetic Variants

Gene:HELQ
Variant:p.R1048K
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HELQ

NM_133636.5:p.R1048K

Associated Papers

Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.

Khan H et al.

Scientific Reports, 2024

39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › SPK14_het

Targeted sequencing of established and candidate colorectal cancer genes in the Colon Cancer Family Registry Cohort.

Raskin L et al.

Oncotarget, 2017

29212164 (PubMed )
Supplement: oncotarget-08-93450-s002.xlsx › Sup.Table1-All_rare_variants
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