All individuals with variants in gene RANBP2

3 entries on 1 page. Showing entries 1 - 3.
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AscendingIndividual ID     

ID_report     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age at death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00208788 - - - M - Germany - - - - - - HP:0000256 (Macrocephaly); HP:0011342 (Mild global developmental delay); HP:0002121 (Absence seizures); HP:0002197 (Generalized seizures) 1 1 Andreas Laner
00374824 S-3843 PubMed: Ganapathy 2019 - - - India - - - - - ? - 1 1 Johan den Dunnen
00454721 NGSP110 PubMed: Legati 2016 “affected” mother F - - - - - - - mitochondrial pshycomotor delay, epilepsy 1 1 Daniele Ghezzi
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