Associated Papers
Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II.
Marzano F et al.
International Journal of Molecular Sciences, 2023
37569667 (PubMed )
Supplement: ijms-24-12291-s001.zip › ijms-2396393-supplementary › supplementary_tables › Supplementary_Table_S3.xls › cand_dom_annot.vcf.hg19_multian
Hornerin deposits in neuronal intranuclear inclusion disease: direct identification of proteins with compositionally biased regions in inclusions.
Park H et al.
Acta Neuropathologica Communications, 2022
35246273 (PubMed )
Supplement: 40478_2022_1333_MOESM3_ESM.xlsx › Exome_summary
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