From: Altered localization and functionality of TAR DNA Binding Protein 43 (TDP-43) in niemann- pick disease type C
Patient
Allele 1
Allele 2
NPC-1
c.3182 T > C (p. I1061T)
c.3182 T > C (p.I1061T)
NPC-2
NPC-3
c.2291C > T (p.A764V)
c.2819C > T (p.S940L)
NPC-4
c.2800C > T (p.R934X)
c.3235 T > C (p.F1079L)