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Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.
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Signal Transduction and Targeted Therapy, 2022
34980881 (PubMed )
Supplement: 41392_2021_710_MOESM2_ESM.xlsx › P7602-S4
Family-Based Whole-Exome Analysis of Specific Language Impairment (SLI) Identifies Rare Variants in BUD13, a Component of the Retention and Splicing (RES) Complex.
Andres EM et al.
Brain Sciences, 2021
35053791 (PubMed )
Supplement: brainsci-12-00047-s001.zip › brainsci-1490268_Tables_S1-7_Dec29-2021.xlsx › Table_S7._12var_cand-genes
A chemical genetic screen identifies Aurora kinases as a therapeutic target in EGFR T790M negative, gefitinib-resistant head and neck squamous cell carcinoma (HNSCC).
Low JL et al.
Ebiomedicine, 2021
33529999 (PubMed )
Supplement: mmc2.xlsx › Table_S2
Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.
Xing Y et al.
Plos Neglected Tropical Diseases, 2020
33362202 (PubMed )
Supplement: pntd.0008883.s010.xlsx › S9-rare_variants_in_8_families
Study of Caspase 8 mutation in oral cancer and adjacent precancer tissues and implication in progression.
Singh R et al.
Plos One, 2020
32492030 (PubMed )
Supplement: pone.0233058.s001.xlsx › RADS37
Dual Regulatory Mechanisms of Expression and Mutation Involving Metabolism-Related Genes FDFT1 and UQCR5 during CLM.
Ma YS et al.
Molecular Therapy Oncolytics, 2019
31236441 (PubMed )
Supplement: mmc1.pdf
Evolutionary history of human colitis-associated colorectal cancer.
Baker AM et al.
Gut, 2019
29991641 (PubMed )
Supplement: gutjnl-2018-316191supp005.xlsx › UC03
Capturing the biology of disease severity in a PSC-based model of familial dysautonomia.
Zeltner N et al.
Nature Medicine, 2016
27841875 (PubMed )
Supplement: 41591_2016_BFnm4220_MOESM18_ESM.xlsx › heterozygous_variants
Co-existence of BRAF and NRAS driver mutations in the same melanoma cells results in heterogeneity of targeted therapy resistance.
Raaijmakers MI et al.
Oncotarget, 2016
27791198 (PubMed )
Supplement: oncotarget-07-77163-s002.xlsx › Patient_3_late_met_1
A novel null homozygous mutation confirms CACNA2D2 as a gene mutated in epileptic encephalopathy.
Pippucci T et al.
Plos One, 2013
24358150 (PubMed )
Supplement: pone.0082154.s002.xls › Sheet1
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