CRISPR/Cas9 technology targeting exon 2 generated a 2 bp deletion (103352 and 103353) resulting in a frameshift and multiple stop codons after the first 13 amino acid coding triplets. N6-trimethyllysine dioxygenase enzyme activity is completely absent in the liver. (J:341247)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count