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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Genetic epidemiology approach to estimating birth incidence and current disease prevalence for rhizomelic chondrodysplasia punctata

Fig. 1

Overview of the mutational landscape for genes involved in RCDP. Depiction of variants known or predicted to disrupt protein function for PEX7, GNPAT, AGPS, FAR1 and PEX5. Ball size is proportional to the aggregate allelic frequency for variants identified within the gnomad, non-Finnish European and TOPmed datasets, and clustered according to gene and expected molecular consequence

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172