Associated Papers
Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.
Kim J et al.
Human Genomics, 2025
41331868 (PubMed )
Supplement: 40246_2025_855_MOESM1_ESM.xlsx › Table_S1.
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
Novel CHP1 mutation in autosomal-recessive cerebellar ataxia: autopsy features of two siblings.
Saito R et al.
Acta Neuropathologica Communications, 2020
Genomic Characteristics of Gender Dysphoria Patients and Identification of Rare Mutations in RYR3 Gene.
Yang F et al.
Scientific Reports, 2017
Select a paper to view details