The gene consists of 6 coding exons (7 total exons). Exons 1 and 2 of transcript NCBI accession BC008980 or exon 1 of transcript Ensembl accession ENST00000376223 were/was targeted. Immunohistochemistry confirmed the absence of protein expression in the limb. (J:171883, J:203823)
Legend:
cx: complex: > 1 genome feature ot: other: hemizygous, indeterminate,... (F): Female
(M): Male
N: normal phenotype
(#): related diseases count