Associated Papers
A mutation in CCDC91, Homo sapiens coiled-coil domain containing 91 protein, cause autosomal-dominant acrokeratoelastoidosis.
Zhu Y et al.
European Journal of Human Genetics : Ejhg, 2024
38627542 (PubMed )
Supplement: 41431_2024_1573_MOESM3_ESM.xlsx › Sheet1
Molecular characterization of sub-frontal recurrent medulloblastomas reveals potential clinical relevance.
Chen Z et al.
Frontiers in Neurology, 2023
37181548 (PubMed )
Supplement: Data_Sheet_2.xlsx › Germline_mutation-case_2
Deregulated Immune Pathway Associated with Palbociclib Resistance in Preclinical Breast Cancer Models: Integrative Genomics and Transcriptomics.
Pandey K et al.
Genes, 2021
33504001 (PubMed )
Supplement: genes-12-00159-s001.zip › genes_-_1049728_-_supplementary › supplementary_tables.xlsx › STable2
Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene.
Zhu YM et al.
Frontiers in Cell and Developmental Biology, 2021
34692690 (PubMed )
Supplement: Table_2.xlsx › Supplementary_Table_7
Evolutionary history of human colitis-associated colorectal cancer.
Baker AM et al.
Gut, 2019
29991641 (PubMed )
Supplement: gutjnl-2018-316191supp003.xlsx › Supp_Table_5_-_mutations
Renal hypouricemia caused by novel compound heterozygous mutations in the SLC22A12 gene: a case report with literature review.
Zhou Z et al.
Bmc Medical Genetics, 2018
30097038 (PubMed )
Supplement: 12881_2018_595_MOESM1_ESM.xlsx › Sheet2
Rare Case of Ulnar-Mammary-Like Syndrome With Left Ventricular Tachycardia and Lack of TBX3 Mutation.
Zlotina A et al.
Frontiers in Genetics, 2018
29963074 (PubMed )
Supplement: Table_1.XLSX › ____1
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