The insertion of a PGK-neo cassette into exon 2 at nucleotide 91263 interrupted the gene after cDNA nucleotide 601, thereby abrogating any alternatively spliced gene forms. (J:98568)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count