Associated Papers
Whole-Genome Sequencing Reveals a Novel GATA2 Mutation in Lower-Grade Glioma: Bioinformatics Analysis of Functional and Therapeutic Implications.
Handoko et al.
Cancers, 2025
41154393 (PubMed )
Supplement: cancers-17-03338-s001.zip › Table_S1._SNV_Analysis.xlsx › SNV_Analysis
Profiling genetic variants in cardiovascular disease genes among a Heterogeneous cohort of Mendelian conditions patients and electronic health records.
Akawi N et al.
Frontiers in Molecular Biosciences, 2024
39411402 (PubMed )
Supplement: Table1.XLSX › Supplemental_Table_S11
APPLICATION OF THE ACMG/AMP FRAMEWORK TO CAPTURE EVIDENCE RELEVANT TO PREDICTED AND OBSERVED IMPACT ON SPLICING: RECOMMENDATIONS FROM THE CLINGEN SVI SPLICING SUBGROUP.
Walker LC et al.
Medrxiv : the Preprint Server for Health Sciences, 2023
36865205 (PubMed )
Supplement: media-3.xlsx › Table_S7
Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.
Fang Y et al.
Frontiers in Genetics, 2023
37007936 (PubMed )
Supplement: Table1.XLS › Sheet
Genetic architecture of band neutrophil fraction in Iceland.
Oskarsson GR et al.
Communications Biology, 2022
35650273 (PubMed )
Supplement: 42003_2022_3462_MOESM2_ESM.pdf
Frequent mutation of hypoxia-related genes in persistent pulmonary hypertension of the newborn.
Wang M et al.
Respiratory Research, 2020
32054482 (PubMed )
Supplement: 12931_2020_1314_MOESM1_ESM.xlsx › SS
Three-dimensional modelling identifies novel genetic dependencies associated with breast cancer progression in the isogenic MCF10 model.
Maguire SL et al.
The Journal of Pathology, 2016
27512948 (PubMed )
Supplement: PATH-240-315-s015.xlsx › Table_S2
Sequence and analysis of a whole genome from Kuwaiti population subgroup of Persian ancestry.
Thareja G et al.
Bmc Genomics, 2015
25765185 (PubMed )
Supplement: 12864_2015_1233_MOESM5_ESM.xlsx › Table_S2
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