Terminology Service for NFDI4Health
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is causal gain of function germline mutation of in

Go to external page http://purl.obolibrary.org/obo/RO_0004011

Relates a gene to condition, such that a mutation in this gene in a germ cell provides a new function of the corresponding product and that is sufficient to produce the condition and that can be passed on to offspring[modified from orphanet].

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creation date

2017-11-05T02:55:51Z

imported from

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

see also

http://www.orpha.net/ORDO/Orphanet_410296

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