All individuals with variants in gene HMBS

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     
00287369 - - - F - Spain - - - - - AIP - 1 1 Manuel Mendez
00287371 - - - F - Spain p - - - - AIP - 1 1 Manuel Mendez
00290262 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - - - - ? - 1 1 Mohammed Faruq
00295537 - - - M - - - - - - - ? Porphyrinuria (HP:0010473); Abnormality of the heme biosynthetic pathway (HP:0010472) 1 1 Andreas Laner
00303000 Pat45 PubMed: Helbig 2016 - - - United States - - - - - seizures Genetic Generalized Epilepsy; age onset childhood 1 1 Johan den Dunnen
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