CRISPR/Cas9 technology using gRNAs 5-ACCCTTGGTATCCCGAGAACTGG-3 AND 5-AGACAACATTAATTGTATACGGG-3 deleted exon 3 and resulted in premature termination of mRNA translation at Val114. (J:341137)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count