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 › HLMS24_het
Mutations in ATP13A2 (PARK9) are associated with an amyotrophic lateral sclerosis-like phenotype, implicating this locus in further phenotypic expansion.
Spataro R et al.
Human Genomics, 2019
CD45-deficient severe combined immunodeficiency caused by uniparental disomy.
Roberts JL et al.
Proceedings of the National Academy of Sciences of the United States of America, 2012
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