Varaico: Literature-Extracted Genetic Variants

Gene:ELP1
Variant:p.Y806C
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ELP1

NM_003640.5:p.Y806C

Associated Papers

Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.

Kim J et al.

Human Genomics, 2025

41331868 (PubMed )
Supplement: 40246_2025_855_MOESM1_ESM.xlsx › Table_S1.
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