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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ERCC8

Variant:p.T143fs

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ERCC8

NM_000082.4:p.T143fs

hg38:chr5:60904846 TGT>N

Associated Papers

The landscape of pediatric genetic white matter disorders at a tertiary referral hospital in Upper Egypt and the report of 31 novel variants.

Noureldeen MM et al.

Italian Journal of Pediatrics, 2025

40514726 (PubMed )

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