All individuals with variants in gene TRERF1

2 entries on 1 page. Showing entries 1 - 2.
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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     
00361580 13DG1876 PubMed: Anazi 2017 simplex case F yes Saudi Arabia - - - - - ID syndromic; global developmental delay, microcephaly, elevated lactic acid with hydronephrosis 1 1 Johan den Dunnen
00447382 STGD-436 PubMed: Weisschuh 2024 patient, no family history F - Germany - - - - - ? - 1 1 Johan den Dunnen
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