(Q46560857)
Statements
A homozygous NOTCH3 mutation p.R544C and a heterozygous TREX1 variant p.C99MfsX3 in a family with hereditary small vessel disease of the brain (English)
Bing-Wen Soong
Yi-Chu Liao
Pei-Chien Tsai
I-Hui Lee
Chih-Ping Chung