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Table 2 Distribution of the scoring for the four selection criteria

From: TREAT: systematic and inclusive selection process of genes for genomic newborn screening as part of the Screen4Care project

 

0

1

2

Clinical validity

36

11

438

Age of onset

136

0

349

Disease severity

7

311

167

Penetrance

19

190

276

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172