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Q52839213-965C4ECA-8A7D-47CF-A0D2-5D28F2F07572
Q52839213-965C4ECA-8A7D-47CF-A0D2-5D28F2F07572
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http://www.wikidata.org/entity/statement/Q52839213-965C4ECA-8A7D-47CF-A0D2-5D28F2F07572
Diagnostic whole genome sequencing and split-read mapping for nucleotide resolution breakpoint identification in CNTNAP2 deficiency syndrome.
P2860
Q52839213-965C4ECA-8A7D-47CF-A0D2-5D28F2F07572
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http://www.wikidata.org/entity/statement/Q52839213-965C4ECA-8A7D-47CF-A0D2-5D28F2F07572
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30e481ca0c61a93a5f44fff099f8a3c8bc83f516
P2860
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum