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Gene family information facilitates variant interpretation ..:

Dennis Lal ; Patrick May ; Eduardo Perez-Palma...
http://link.springer.com/article/10.1186/s13073-020-00725-6. , 2020

Link: https://doi.org/10.1186/s13073-020-00725-6

RT Journal
T1 <Title>Gene family information facilitates variant interpretation and identification of disease-associated genes in neurodevelopmental disorders</Title>

UL https://suche.suub.uni-bremen.de/peid=base-ftdoajarticles:oai:doaj.org_article:45a19bc663e847f68db119e08f35c85f&Exemplar=1&LAN=DE
				
A1 Dennis Lal
A1 Patrick May
A1 Eduardo Perez-Palma
A1 Kaitlin E. Samocha
A1 Jack A. Kosmicki
A1 Elise B. Robinson
A1 Rikke S. Møller
A1 Roland Krause
A1 Peter Nürnberg
A1 Sarah Weckhuysen
A1 Peter De Jonghe
A1 Renzo Guerrini
A1 Lisa M. Niestroj
A1 Juliana Du
A1 Carla Marini
A1 EuroEPINOMICS-RES Consortium
A1 James S. Ware
A1 Mitja Kurki
A1 Padhraig Gormley
A1 Sha Tang
A1 Sitao Wu
A1 Saskia Biskup
A1 Annapurna Poduri
A1 Bernd A. Neubauer
A1 Bobby P. C. Koeleman
A1 Katherine L. Helbig
A1 Yvonne G. Weber
A1 Ingo Helbig
A1 Amit R. Majithia
A1 Aarno Palotie
A1 Mark J. Daly
PB BMC
YR 2020
K1 Paralogs
K1 Gene family
K1 Conservation
K1 Missense variants
K1 Neurodevelopmental disorders
K1 Medicine
K1 R
K1 Genetics
K1 QH426-470
JF http://link.springer.com/article/10.1186/s13073-020-00725-6
LK http://dx.doi.org/https://doi.org/10.1186/s13073-020-00725-6
DO https://doi.org/10.1186/s13073-020-00725-6
SF ELIB - SuUB Bremen

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