Varaico: Literature-Extracted Genetic Variants

Gene:HYAL2
Variant:p.I418L
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HYAL2

NM_003773.5:p.I418L

Associated Papers

Elucidating the clinical spectrum and molecular basis of HYAL2 deficiency.

Fasham J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2022

34906488 (PubMed )
Supplement: NIHMS1867258-supplement-Supplemental.docx

Identification of HPV integration and gene mutation in HeLa cell line by integrated analysis of RNA-Seq and MS/MS data.

Sun H et al.

Journal of Proteome Research, 2015

25698088 (PubMed )
Supplement: pr500944c_si_009.xlsx › SNV
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