Associated Papers
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
Genetic Landscape of Rare Autoinflammatory Disease Variants in Qatar and Middle Eastern Populations Through the Integration of Whole-Genome and Exome Datasets.
Sharma P et al.
Frontiers in Genetics, 2021
34054914 (PubMed )
Supplement: Data_Sheet_1.zip › Table_4.XLSX › Sheet1
Substitution at IL1RN and deletion at SLC4A11 segregating with phenotype in familial keratoconus.
Nowak DM et al.
Investigative Ophthalmology & Visual Science, 2013
Blau syndrome with a rare mutation in exon 9 of NOD2 gene.
Velickovic J et al.
Autoimmunity, 0
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