All individuals with variants in gene TBPL2

5 entries on 1 page. Showing entries 1 - 5.
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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     
00408885 1 PubMed: Wyatt-2008 - F - (United Kingdom (Great Britain)) - - - - - retinal disease Extreme Microphthalmia 1 1 LOVD
00418513 Fam10 PubMed: He 2022 - - - China - - - - - ? - 1 1 Johan den Dunnen
00438577 HSC0025 PubMed: Hamdan 2017 WGS analysis 197 individuals with unexplained DEE (unaffected parents) - - Canada - - - - pharmaco-resistant seizures DEE - 1 1 Johan den Dunnen
00457829 cases Journal: Ruotsalainen 2024 genome-wide association study 22,849 women with infertility F - - - - - - - INFF - 1 1 Johan den Dunnen
00457830 cases Journal: Ruotsalainen 2024 analysis 4 affected females F - Finland - - - - - INFF only 4 homozygous women had children, all received infertility treatment 1 1 Johan den Dunnen
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