Varaico: Literature-Extracted Genetic Variants

Gene:ELOVL1
Variant:p.I233V
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ELOVL1

NM_022821.4:p.I233V

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 › HPK8_het

Isolated Paroxysmal Non-kinesigenic Dystonia Associated with Homozygous PDHB Variant in an Indian Family.

Agarwal PA et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2022

35838632 (PubMed )
Supplement: supplement_1.docx
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