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- NP545559.RA1iuaZy4TKjXUY4t4ojP8L5nhko-mH7kvs-_WwWsT7nw130_assertion type Assertion NP545559.RA1iuaZy4TKjXUY4t4ojP8L5nhko-mH7kvs-_WwWsT7nw130_head.
- NP545559.RA1iuaZy4TKjXUY4t4ojP8L5nhko-mH7kvs-_WwWsT7nw130_assertion description "[Molecular analysis of the Norrie gene locus (NDP) in a four generation FEVR family (shown previously to exhibit linkage to the X-chromosome markers DXS228 and MAOA (Xp11.4-p11.3)) reveals a missense mutation in the highly conserved region of the NDP gene, which caused a neutral amino acid substitution (Leu124Phe), was detected in all of the affected males, but not in the unaffected family members, nor in normal controls.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine." NP545559.RA1iuaZy4TKjXUY4t4ojP8L5nhko-mH7kvs-_WwWsT7nw130_provenance.
- NP545559.RA1iuaZy4TKjXUY4t4ojP8L5nhko-mH7kvs-_WwWsT7nw130_assertion evidence source_evidence_literature NP545559.RA1iuaZy4TKjXUY4t4ojP8L5nhko-mH7kvs-_WwWsT7nw130_provenance.
- NP545559.RA1iuaZy4TKjXUY4t4ojP8L5nhko-mH7kvs-_WwWsT7nw130_assertion SIO_000772 8252044 NP545559.RA1iuaZy4TKjXUY4t4ojP8L5nhko-mH7kvs-_WwWsT7nw130_provenance.
- NP545559.RA1iuaZy4TKjXUY4t4ojP8L5nhko-mH7kvs-_WwWsT7nw130_assertion wasDerivedFrom befree-20150227 NP545559.RA1iuaZy4TKjXUY4t4ojP8L5nhko-mH7kvs-_WwWsT7nw130_provenance.
- NP545559.RA1iuaZy4TKjXUY4t4ojP8L5nhko-mH7kvs-_WwWsT7nw130_assertion wasGeneratedBy ECO_0000203 NP545559.RA1iuaZy4TKjXUY4t4ojP8L5nhko-mH7kvs-_WwWsT7nw130_provenance.