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. 2018 Nov 14;9:953. doi: 10.3389/fneur.2018.00953

Table 1.

Variants detected in the 84-years old woman affected by familial CCM.

Gene Variant
KRIT1 rs17164451 c.485+65G>C
rs2027950 c.989+63C>G
rs11542682 c.1980A>G p.Val660 = (HGMD MUT CM105502)
CCM2 rs2304689 c.205-36A>G
rs11552377 (HGMD CM105503) c.358G>A p.Val120Ile
rs55967204 c.745+98G>C
rs2289367 c.915G>A p.Thr305 =
rs2289369 c.915+119C>T
IVS10-1G>A