Associated Papers
Trio RNA sequencing in a cohort of medically complex children.
Deshwar AR et al.
American Journal of Human Genetics, 2023
36990084 (PubMed )
Supplement: mmc1.pdf
Whole-Exome Sequencing, Proteome Landscape, and Immune Cell Migration Patterns in a Clinical Context of Menkes Disease.
Martinez-Fierro ML et al.
Genes, 2021
34069220 (PubMed )
Supplement: genes-12-00744-s001.zip › genes-1168754-supplementary.pdf
13 novel putative mutations in ATP7A found in a cohort of 25 Italian families.
de Gemmis P et al.
Metabolic Brain Disease, 2017
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