All individuals with variants in gene GSPT2

6 entries on 1 page. Showing entries 1 - 6.
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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     
00024224 - PubMed: Wibley 2010 2-generation family, 2 affecteds, carrier mother M - - - - 0 - - MRX;IDX - 1 2 Johan den Dunnen
00050565 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? cognitive impairment, restlessness, inappropriate behavior 1 1 Johan den Dunnen
00103895 28327206-PatBH4360_1 PubMed: Eldomery 2017, Journal: Eldomery 2017 - - - United States - - 0 - - ? autism spectrum disorder, speech delay, seizures 1 1 Johan den Dunnen
00173287 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173448 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
00173550 19377476-Pat? PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX - 1 1 Lucy Raymond
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