Gene-Rare Disease-Provenance dataset collection
Version 3 2020-12-14, 16:20
Version 2 2020-03-06, 11:14
Version 1 2019-02-14, 11:45
Posted on 2020-12-14 - 16:20 authored by Friederike Ehrhart
In this dataset we provide monogenic, rare diseases (OMIM identifier)
with a known genetic cause (HGNC, Ensembl) supplemented with manually
extracted provenance of both the disease and the discovery of the
underlying genetic cause of the disease (PMID).
CITE THIS COLLECTION
DataCite
3 Biotech
3D Printing in Medicine
3D Research
3D-Printed Materials and Systems
4OR
AAPG Bulletin
AAPS Open
AAPS PharmSciTech
Abhandlungen aus dem Mathematischen Seminar der Universität Hamburg
ABI Technik (German)
Academic Medicine
Academic Pediatrics
Academic Psychiatry
Academic Questions
Academy of Management Discoveries
Academy of Management Journal
Academy of Management Learning and Education
Academy of Management Perspectives
Academy of Management Proceedings
Academy of Management Review
Ehrhart, Friederike; Willighagen, Egon; Kutmon, Martina (2019). Gene-Rare Disease-Provenance dataset collection. figshare. Collection. https://doi.org/10.6084/m9.figshare.c.4400798.v3
or
Select your citation style and then place your mouse over the citation text to select it.
