这种自发突变(TT缺失在第57外显子,c.7670_7671del,GRCm39:chr16:g.15587786_15587787del)在一个B10.S-H2s/SgSlc封闭群中被发现。该突变导致了移码和早停密码子(p.F2557Sfs*3)。(来源:J:341230)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count