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instance_more_details.xml
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instance_more_details.xml
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<?xml version="1.0" encoding="UTF-8"?>
<lsdb id="submission1" schema_version="1.0" xmlns="http://varioml.org/xml/1.0"
xmlns:xsi="http://www.w3.org/2001/XMLSchema-instance"
xsi:schemaLocation="http://gen2phen.org/lsdb/2.0 file:/Users/muilu/Documents/Dev/SVN_repos/gen2phen/trunk/data_formats/xml/lsdb.xsd">
<source id="fimm">
<name>Insitute for Molecular Medicine Finland (FIMM)</name>
<contact>
<name>J. Muilu</name>
</contact>
</source>
<individual id="id1">
<gender code="1"/>
<phenotype source="DOID" accession="5956" term="Fanconi anemia"/>
<population term="Caucasian" type="ethnic"> <evidence_code source="example_ontology" accession="abcd" term="ethnicity of mother"/></population>
<population term="Asian" type="ethnic"> <evidence_code source="example_ontology" accession="cdef" term="ethnicity of father"/></population>
<variant id="id5">
<gene source="HGNC" accession="BRCA2"/>
<ref_seq accession="XX"></ref_seq>
<name scheme="HGVS"> c.8488-1G>A </name>
<seq_changes>
<variant id="id5_1">
<ref_seq accession="XZO"></ref_seq>
<name scheme="HGVS"> r.8488_8491deltgga</name>
<seq_changes>
<variant type="AA" id="id5_2">
<ref_seq accession="XXX"></ref_seq>
<name scheme="HGVS">p.W2830_K2833del</name>
</variant>
</seq_changes>
</variant>
</seq_changes>
</variant>
</individual>
</lsdb>