five

Highlighted samples from the BCH CRDC

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https://www.omicsdi.org/dataset/ega/EGAS00001004436
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These exomes are from some of the patients and family members detailed in our forthcoming publication, Children’s Rare Disease Cohorts: an integrative research and clinical genomics initiative. While this paper details an institutional collection of exomes, the samples here were specifically highlighted as having significant findings.EGA study EGAS00001004436
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2022-01-25
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