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Organizing biological data
Homo sapiens isolate:CHM13
Homo sapiens isolate:CHM13 RefSeq Genome sequencing and assembly
T2T - CHM13
CCM1 and CCM2 mutations in patients with cerebral cavernous malformation in an ethnic Chinese population in Taiwan
We analyzed CCM1/KRIT1, CCM2/MGC4607, and CCM3/PCDP10 among 41 patients with cerebral cavernous malformation. Then, we found two novel pathological variants of CCM1 (c.1846delA and c.485+1G>C) and one novel variants of CCM2 (c.401_402insGCCC).
Homo sapiens
Assembly and annotation of human chromosome 7
Celera Genomics WGS human genome sequencing project
RefSeq annotation of the human reference genome assembly
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