Varaico: Literature-Extracted Genetic Variants

Gene:TH
Variant:p.R15L
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TH

NM_000360.4:p.R15L

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.

Targeted resequencing identifies genes with recurrent variation in cerebral palsy.

van Eyk CL et al.

Npj Genomic Medicine, 2019

31700678 (PubMed )
Supplement: 41525_2019_101_MOESM1_ESM.pdf
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