Associated Papers
Mutations of MSH5 in nonobstructive azoospermia (NOA) and rescued via in vivo gene editing.
Chen M et al.
Signal Transduction and Targeted Therapy, 2022
34980881 (PubMed )
Supplement: 41392_2021_710_MOESM2_ESM.xlsx › P8944-S3
Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.
Chen W et al.
Frontiers in Neurology, 2022
36619910 (PubMed )
Supplement: Data_Sheet_3.ZIP › case-C › 3.________ › CA2245B________.__________________________________.xlsx › sheet1
Germinal GLT8D1, GATAD2A and SLC25A39 mutations in a patient with a glomangiopericytal tumor and five different sarcomas over a 10-year period.
Beddok A et al.
Scientific Reports, 2021
33963205 (PubMed )
Supplement: 41598_2021_88671_MOESM8_ESM.xlsx › Supp_Table_S3
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
De Novo Occurrence of a Variant in ARL3 and Apparent Autosomal Dominant Transmission of Retinitis Pigmentosa.
Strom SP et al.
Plos One, 2016
26964041 (PubMed )
Supplement: pone.0150944.s002.xls › All_variants
The eSNV-detect: a computational system to identify expressed single nucleotide variants from transcriptome sequencing data.
Tang X et al.
Nucleic Acids Research, 2014
25352556 (PubMed )
Supplement: supp_gku1005_nar-01266-met-n-2014-File012.xlsx › TCGA-A8-A091-01A.domain
Next generation exome sequencing of paediatric inflammatory bowel disease patients identifies rare and novel variants in candidate genes.
Christodoulou K et al.
Gut, 2013
22543157 (PubMed )
Supplement: gutjnl-2011-301833-s1.pdf
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