All individuals with variants in gene HARS

4 entries on 1 page. Showing entries 1 - 4.
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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     
00000206 - - - ? ? ? (unknown) - - - - - - - 6 363 Anthony Antonellis
00050575 - PubMed: DDDS 2015, Journal: DDDS 2015 family, 1 affected F - United Kingdom (Great Britain) - - 0 Decipher - ? intellectual disability, seizures 1 1 Johan den Dunnen
00208619 - - - F - Germany - - 0 - - - HP:0003482 (EMG: axonal abnormality) 1 1 Andreas Laner
00231412 - Cox, submitted 2019 - - - United States - - 0 - - CLP vertebral hyper segmentation (HP:0003422), rib hyper segmentation (HP:0006655) 1 6 Timothy Cox
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