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Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7
https://www.gimjournal.org/article/S1098-3600(21)01187-4/fulltext
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Curated by @MPiovesana
https://canto.phi-base.org/curs/0603f5b854b64f55
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@KittyMurphy
@NathanSkene and I discussed whether congenital phenotypes should be excluded from the gene therapy target prioritisation pipeline.
@NathanSkene suggested that congenital phenotypes sh…
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Dear Professor,
I would like to ask whether "Forwardgenomics" is suitable for the analysis of CNE differences in new phenotypic species.
I wish all the best!
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We discussed this problem before when I tried to come up with a logical definition for beaded ribs (#3300).
I think beaded ribs has 2 meanings: it can refer to a swelling at the junction of a rib an…
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Hi all,
As a follow up from https://github.com/jump-cellpainting/datasets/issues/77, I have been trying to map compound identifiers mentioned in the Target-2 [plate map](https://github.com/jump-cel…
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Hi DO curators,
https://disease-ontology.org/?id=DOID:3762, cytochrome-c oxidase deficiency disease, has this definition and no children:
A mitochondrial metabolism disease that is characterized…
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OMIM made a request that we use MIM as a prefix instead of OMIM:
> We prefer that resources use MIM as the CURIE for our numbers. The "O" stands for "online" which is redundant (see
sections 1.8 an…
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New term request Skin biopsy: endarteritis obliterans (elthat_150807073417): Endothelial and medial smooth muscle proliferation and inflammation UMLS: 1260885