[Results show that SHH holoprosencephaly missense mutations affect SHH biogenesis and signaling at multiple steps, which results in low levels of protein expression, defective processing of SHH into its active form and protein with reduced activity.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine.
Gene-disease associations inferred from text-mining the literature.
DisGeNET evidence - LITERATURE