All individuals with variants in gene PLAG1

4 entries on 1 page. Showing entries 1 - 4.
Legend   How to query  

AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00117200 28796236-FamPatI2 PubMed: Abi Habib 2017, for EUCID-SRS consortium 2-generation family, 3 affecteds, mother PatI2 F - - - - - - - SRS;RSS prominent forehead (HP:0011220) 1 3 Zeynep Tümer
00117201 28796236-FamPatII1 PubMed: Abi Habib 2017, for EUCID-SRS consortium - - - - - - - - - SRS;RSS see paper; ..., no prominent forehead (-HP:0011220) 1 1 Zeynep Tümer
00117202 28796236-PatII2 PubMed: Abi Habib 2017, for EUCID-SRS consortium - - - - - - - - - SRS;RSS prominent forehead (HP:0011220) 1 1 Zeynep Tümer
00438715 HSJ0780 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
Legend   How to query  


Screenscraping/webscraping (downloading large amounts of data using scripts) is strictly prohibited.
Use our APIs to retrieve data.