Associated Papers
Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.
Faridi R et al.
Genes, 2024
39062623 (PubMed )
Supplement: genes-15-00845-s001.zip › genes-3045527-Table_S4.xlsx › PKDF1419_SumandMuh_121423_Genet
ACE Phenotyping in Human Blood and Tissues: Revelation of ACE Outliers and Sex Differences in ACE Sialylation.
Enyedi EE et al.
Biomedicines, 2024
38790902 (PubMed )
Supplement: biomedicines-12-00940-s001.zip › biomedicines-2930173-supplementary.pdf
Comparing rare variants versus common in the pathogenesis of nonalcoholic fatty liver disease: a whole exome sequencing approach.
Bale G et al.
Journal of Gastroenterology and Hepatology, 2024
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
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
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