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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ELOVL1

Variant:p.W153R

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ELOVL1

NM_022821.4:p.W153R

hg38:chr1:43364566 A>T

Associated Papers

Biallelic ELOVL1 Variants Are Linked to Hypomyelinating Leukodystrophy, Movement Disorder, and Ichthyosis.

Wong KM et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

40590574 (PubMed )

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."