Associated Papers
Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
39271758 (PubMed )
Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › SPK14_het
MRPS25 mutations impair mitochondrial translation and cause encephalomyopathy.
Bugiardini E et al.
Human Molecular Genetics, 2019
31039582 (PubMed )
Supplement: hmg-2019-d-00137_bugiardini_r1_supplementary_table_s1_ddz093.xlsx › Supplementary_table
Select a paper to view details