Associated Papers
The recommendation of re-classification of variants of uncertain significance (VUS) in adult genetic disorders patients.
Zhang L et al.
Journal of Human Genetics, 2024
Simple visualization method for the c.577del of erythropoietin variant: CRISPR/dCas9-based single nucleotide polymorphism diagnosis.
Yi JY et al.
Drug Testing and Analysis, 2024
Discovery of c.577del in EPO: Investigations into endogenous EPO double-band detected in blood with SAR-PAGE.
Zhou X et al.
Drug Testing and Analysis, 2022
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_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1
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