Associated Papers
Novel NARS2 variants in a patient with early-onset status epilepticus: case study and literature review.
Yang N et al.
Bmc Pediatrics, 2024
38310242 (PubMed )
Supplement: 12887_2024_4553_MOESM1_ESM.xlsx › trio.hg38.filter
Genomic analysis of childhood hearing loss in the Yoruba population of Nigeria.
Adeyemo A et al.
European Journal of Human Genetics : Ejhg, 2022
34837038 (PubMed )
Supplement: 41431_2021_984_MOESM3_ESM.xlsx › Variants_detected
Whole Exome Sequencing of 23 Multigeneration Idiopathic Scoliosis Families Reveals Enrichments in Cytoskeletal Variants, Suggests Highly Polygenic Disease.
Terhune EA et al.
Genes, 2021
34208743 (PubMed )
Supplement: genes-12-00922-s001.zip › genes-1246102-supplementary-final › File_S2.pdf
Effect of splice-site polymorphisms of the TMPRSS4, NPHP4 and ORCTL4 genes on their mRNA expression.
Yamada H et al.
Journal of Genetics, 2005
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