这种突变是在第3和4外显子之间插入的一个基因陷阱,干扰了基因表达。 (Source: The mutation is a gene trap insertion (GTR) between exons 3 and 4 that disrupts gene function.)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count