All individuals with variants in gene BMPR2

5 entries on 1 page. Showing entries 1 - 5.
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AscendingIndividual ID     

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Reference     

Remarks     

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Consanguinity     

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Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000015 - PubMed: Bell 2011 - - - - - - 0 - - autism, BMD/DMD - 1 1 LOVD-team, but with Curator vacancy
00000068 - PubMed: Bell 2011 - - - - - - - - - - in vitro assay 1 1 LOVD-team, but with Curator vacancy
00081436 - - - - - China Han - 0 - - OPLL thoracic ossification of the ligamentum flavum; long regional at the thoracic spine 1 1 Xiaochen Qu
00103745 - PubMed: Neubauer 2018, Journal: Neubauer 2018 - M - Switzerland European 24y 0 - - SUD SUD 1 1 Cordula Haas
00265646 - - - M - - - - 0 - - - Vitreous hemorrhage (HP:0007902); Pulmonary hypertension (HP:0002092); Gastrointestinal telangiectasia (HP:0002604) 1 1 Andreas Laner
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