CRISPR/Cas9 gene editing was used to delete a portion of the 5'UTR and the first exon of the gene (310 bp c.249_61del). RT-PCR and Western blot analysis confirmed absence of mRNA and protein. (J:243374)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count