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- source_evidence_literature type ECO_0000212 NP826497.RAAUjZYdbE9J8v_Lq4teImgR6C2mCVGg0Hu2qdhIy0XnU130_provenance.
- source_evidence_literature label "DisGeNET evidence - LITERATURE" NP826497.RAAUjZYdbE9J8v_Lq4teImgR6C2mCVGg0Hu2qdhIy0XnU130_provenance.
- source_evidence_literature comment "Gene-disease associations inferred from text-mining the literature." NP826497.RAAUjZYdbE9J8v_Lq4teImgR6C2mCVGg0Hu2qdhIy0XnU130_provenance.
- NP826497.RAAUjZYdbE9J8v_Lq4teImgR6C2mCVGg0Hu2qdhIy0XnU130_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." NP826497.RAAUjZYdbE9J8v_Lq4teImgR6C2mCVGg0Hu2qdhIy0XnU130_provenance.
- NP826497.RAAUjZYdbE9J8v_Lq4teImgR6C2mCVGg0Hu2qdhIy0XnU130_assertion evidence source_evidence_literature NP826497.RAAUjZYdbE9J8v_Lq4teImgR6C2mCVGg0Hu2qdhIy0XnU130_provenance.
- NP826497.RAAUjZYdbE9J8v_Lq4teImgR6C2mCVGg0Hu2qdhIy0XnU130_assertion SIO_000772 8252044 NP826497.RAAUjZYdbE9J8v_Lq4teImgR6C2mCVGg0Hu2qdhIy0XnU130_provenance.
- NP826497.RAAUjZYdbE9J8v_Lq4teImgR6C2mCVGg0Hu2qdhIy0XnU130_assertion wasDerivedFrom befree-20140225 NP826497.RAAUjZYdbE9J8v_Lq4teImgR6C2mCVGg0Hu2qdhIy0XnU130_provenance.
- NP826497.RAAUjZYdbE9J8v_Lq4teImgR6C2mCVGg0Hu2qdhIy0XnU130_assertion wasGeneratedBy ECO_0000203 NP826497.RAAUjZYdbE9J8v_Lq4teImgR6C2mCVGg0Hu2qdhIy0XnU130_provenance.
- befree-20140225 importedOn "2014-02-25" NP826497.RAAUjZYdbE9J8v_Lq4teImgR6C2mCVGg0Hu2qdhIy0XnU130_provenance.