| http://www.w3.org/ns/prov#value | - The mother had a nonsense mutation and the father had a missense mutation.A nonsense mutation stops the reading of messenger RNA, resulting in a truncated protein that does not work.A missense mutation is a change that results in the production of a different amino acid that causes an alteration in the protein associated with the gene.When SPR is mutated, it disrupts a cellular pathway that is res
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