Associated Papers
Sustained HIV-1 remission after heterozygous CCR5Δ32 stem cell transplantation.
Gaebler C et al.
Nature, 2026
41326734 (PubMed )
Supplement: 41586_2025_9893_MOESM5_ESM.xlsx › filtered_HIV_CD4_binding_putati
Proteogenomic Profiling of Treatment-Naïve Metastatic Malignant Melanoma.
Kuras M et al.
Cancers, 2025
40075679 (PubMed )
Supplement: cancers-17-00832-s001.zip › Table_S5._SAAVs.xlsx › Table_S5A
Stratified analyses refine association between TLR7 rare variants and severe COVID-19.
Boos J et al.
Hgg Advances, 2024
38944683 (PubMed )
Supplement: mmc4.xlsx › single_variants_p_lt_0.05
Targeted gene sequencing of FYCO1 identified a novel mutation in a Pakistani family for autosomal recessive congenital cataract.
Saleem RS et al.
Molecular Genetics & Genomic Medicine, 2022
Investigating underlying human immunity genes, implicated diseases and their relationship to COVID-19.
Ahmed Z et al.
Personalized Medicine, 2022
Genetic variants determine intrafamilial variability of SARS-CoV-2 clinical outcomes in 19 Italian families.
Azzarà A et al.
Plos One, 2022
Genetic variability in COVID-19-related genes in the Brazilian population.
Secolin R et al.
Human Genome Variation, 2021
33824725 (PubMed )
Supplement: 41439_2021_146_MOESM3_ESM.xlsx › In_silico_prediction_results
A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
Gatticchi L et al.
Bmc Medical Genetics, 2020
32867697 (PubMed )
Supplement: 12881_2020_1110_MOESM2_ESM.xls › NGS277_S29011_Complete
Novel mutations identified in Chinese families with autosomal dominant congenital cataracts by targeted next-generation sequencing.
Li S et al.
Bmc Medical Genetics, 2019
31842807 (PubMed )
Supplement: 12881_2019_933_MOESM2_ESM.xlsx › ___1
Novel missense mutation in the bZIP transcription factor, MAF, associated with congenital cataract, developmental delay, seizures and hearing loss (Aymé-Gripp syndrome).
Javadiyan S et al.
Bmc Medical Genetics, 2017
28482824 (PubMed )
Supplement: 12881_2017_414_MOESM2_ESM.xlsx › Exonic_variants
Targeted Genes Sequencing Identified a Novel 15 bp Deletion on GJA8 in a Chinese Family with Autosomal Dominant Congenital Cataracts.
Min HY et al.
Chinese Medical Journal, 2016
Next-generation sequencing identifies transportin 3 as the causative gene for LGMD1F.
Torella A et al.
Plos One, 2013
23667635 (PubMed )
Supplement: pone.0063536.s006.xlsx › LGMD1F_HET_in_all
In silico prediction of deleterious single amino acid polymorphisms from amino acid sequence.
Li S et al.
Journal of Computational Chemistry, 2011
21425278 (PubMed )
Supplement: supplement_1.pdf
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