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- NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_assertion type Assertion NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_head.
- NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_assertion description "[We now show compound heterozygous mutations, Phe361fsX379 and Trp340Arg, in the zinc metalloproteinase (ZMPSTE24) gene in one of the four patients who had severe MAD associated with progeroid appearance and generalized lipodystrophy.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_provenance.
- NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_assertion evidence source_evidence_literature NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_provenance.
- NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_assertion SIO_000772 12913070 NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_provenance.
- NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_assertion wasDerivedFrom befree-20140225 NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_provenance.
- NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_assertion wasGeneratedBy ECO_0000203 NP515055.RA6OP3kqmjLQXhewFifhu8lG57OimfmjHUjS6sXWPpzwY130_provenance.