The nucleotides encoding the codon for Leucine 278 were deleted by CRISPR/Cas9 mutagenesis, recapitulating a mutation identified in a human variant. (J:268904)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count