插入了Velocigene cassette ZEN-Ub1导致了染色体10(基因组Build37)127705793-127707088区间1296bp的缺失。该 cassette插入到了exon 1。逆转录PCR证实了肝脏中转录表达的缺失。(来源:J:136110)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count