Terminology Service for NFDI4Health
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is causal germline mutation partially giving rise to

Go to external page http://purl.obolibrary.org/obo/RO_0004016

Relates a gene to condition, such that a mutation in this gene partially contributes to the presentation of this condition[modified from orphanet].

Property info

creation date

2017-11-05T02:58:43Z

imported from

http://purl.obolibrary.org/obo/ro.owl

see also

http://www.orpha.net/ORDO/Orphanet_317346

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