Associated Papers
Discovery of CCDC188 gene as a novel genetic target for human acephalic spermatozoa syndrome.
Wang J et al.
Protein & Cell, 2024
38616611 (PubMed )
Supplement: pwae018_suppl_supplementary_material.pdf
Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.
Zhou C et al.
Chinese Medical Journal, 2023
37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET
Cathepsin B p.Gly284Val Variant in Parkinson's Disease Pathogenesis.
Milanowski LM et al.
International Journal of Molecular Sciences, 2022
35806091 (PubMed )
Supplement: ijms-23-07086-s001.zip › Supplementary_Table_S1.xlsx › Homozygotes
Integrated genomics point to immune vulnerabilities in pleural mesothelioma.
Nastase A et al.
Scientific Reports, 2021
34580349 (PubMed )
Supplement: 41598_2021_98414_MOESM2_ESM.xlsx › Table_4_WGS_cell_
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