Associated Papers
Human iPSC-based breast cancer model identifies S100P-dependent cancer stemness induced by BRCA1 mutation.
Liu J et al.
Science Advances, 2025
40712032 (PubMed )
Supplement: sciadv.adi2370_tables_s8_and_s9.zip › adi2370_table_s9.xlsx › iPSC-MCs_tumor_3
Computational analysis of congenital heart disease associated SNPs: unveiling their impact on the gene regulatory system.
Vashisht S et al.
Bmc Genomics, 2025
39838281 (PubMed )
Supplement: 12864_2025_11232_MOESM4_ESM.xlsx › ClinVar_CHD-SNPs_uniq
Non-polyalanine repeat mutation in PHOX2B is detected in autopsy cases of sudden unexpected infant death.
Ueda A et al.
Plos One, 2022
35486589 (PubMed )
Supplement: pone.0267751.s001.xls › SIDS3-full
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
Postmortem genetic screening of SNPs in RyR2 gene in sudden unexplained nocturnal death syndrome in the southern Chinese Han population.
Huang L et al.
Forensic Science International, 2014
[Gene detection of GPD1-L and the association with sudden unexplained death syndrome in young adults].
Xu XL et al.
Fa Yi Xue Za Zhi, 2013
Denaturing HPLC-based approach for detecting RYR2 mutations involved in malignant arrhythmias.
Bagattin A et al.
Clinical Chemistry, 2004
Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias.
Veronese C et al.
Human Genetics, 2004
Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias.
Veronese C et al.
Human Genetics, 2004
Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias.
Bagattin A et al.
Human Genetics, 2004
Gene symbol: RYR2. Disease: Effort-induced polymorphic ventricular arrhythmias.
Bagattin A et al.
Human Genetics, 2004
Mutations of the cardiac ryanodine receptor (RyR2) gene in familial polymorphic ventricular tachycardia.
Laitinen PJ et al.
Circulation, 2001
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