All individuals with variants in gene DGUOK

7 entries on 1 page. Showing entries 1 - 7.
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AscendingIndividual ID     

Individual_ID     

Reference     

Remarks     

Gender     

Consanguinity     

Country     

Population     

Age/Death     

VIP     

Data_av     

Treatment     

Disease     

Phenotype details     

Variants     

Panel size     

Owner     
00000010 - PubMed: Bell 2011 - - - - - - - - - - - 1 1 LOVD-team, but with Curator vacancy
00004534 - - - - no ? (unknown) - - 0 - - MTDPS-3 - 2 1 Carl Fratter
00004535 - - - - - ? (unknown) - - 0 - - MTDPS-3 - 1 1 Carl Fratter
00035586 - - suspected MDS (daughter died: suspected mitochondrial disease, mitochondriopathy - - Germany - - 0 - - - - 1 1 Andreas Laner
00035587 - - suspected MDS - - Germany - - 0 - - - - 1 1 Andreas Laner
00081031 - Trujillano et al., submitted unaffected parents - - - - - 0 - - MTDPS-3 m DNA depletion syndrome 3 (hepatocerebral type) (OMIM:251880) 1 1 Daniel Trujillano
00081059 - Trujillano et al., submitted unaffected parents - - - - - 0 - - MTDPS-3 m DNA depletion syndrome 3 (hepatocerebral type) (OMIM:251880) 1 1 Daniel Trujillano
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