Associated Papers
Complex IV deficiency due to COX4I1 deep intronic and de novo variants results in progressive motor impairment and Leigh syndrome.
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Genetic investigations on singleton school aged children reveal novel variants and new candidate genes for hearing loss.
Khan H et al.
Scientific Reports, 2024
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Supplement: 41598_2024_71407_MOESM1_ESM.xlsx › HLMS33_het
Whole-Exome Sequencing Revealed New Candidate Genes for Human Dilated Cardiomyopathy.
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Diagnostics (basel, Switzerland), 2022
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