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
Neuroblastoma arises in early fetal development and its evolutionary duration predicts outcome.
Körber V et al.
Nature Genetics, 2023
36973454 (PubMed )
Supplement: 41588_2023_1332_MOESM4_ESM.xlsx › Supplementary_Table_7
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_1
Integrated genomic and transcriptomic analysis suggests KRT18 mutation and MTAP are key genetic alterations related to the prognosis between astrocytoma and glioblastoma.
Li Z et al.
Annals of Translational Medicine, 2021
Molecular features of premenopausal breast cancers in Latin American women: Pilot results from the PRECAMA study.
Olivier M et al.
Plos One, 2019
30653559 (PubMed )
Supplement: pone.0210372.s001.xlsx › Table_C
Efficient Mining of Variants From Trios for Ventricular Septal Defect Association Study.
Jiang P et al.
Frontiers in Genetics, 2019
31440271 (PubMed )
Supplement: Table_1.xlsx › SS-based_coding_variants
Genomic case report of a low grade bladder tumor metastasis to lung.
Van Every MJ et al.
Bmc Urology, 2018
30176882 (PubMed )
Supplement: 12894_2018_386_MOESM5_ESM.xlsx › unique_to_Lung_metastasis
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
iPSC modeling of severe aplastic anemia reveals impaired differentiation and telomere shortening in blood progenitors.
Melguizo-Sanchis D et al.
Cell Death & Disease, 2018
29374141 (PubMed )
Supplement: 41419_2017_141_MOESM8_ESM.xlsx › SAA3_Deleterious_Hits
Family-specific, novel, deleterious germline variants provide a rich resource to identify genetic predispositions for BRCAx familial breast cancer.
Wen H et al.
Bmc Cancer, 2014
24969172 (PubMed )
Supplement: 1471-2407-14-470-S2.xlsx › Shared_variants
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