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(Q57306573)

English

Reconciling newborn screening and a novel splice variant in associated with partial biotinidase deficiency: a BabySeq Project case report

article by Jaclyn B Murry et al published August 2018 in Cold Spring Harbor molecular case studies

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Reconciling newborn screening and a novel splice variant in associated with partial biotinidase deficiency: a BabySeq Project case report (English)
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Jaclyn B Murry
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Kalotina Machini
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Ozge Ceyhan-Birsoy
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Amy Kritzer
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Joel B Krier
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Shawn Fayer
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Casie A Genetti
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Grace E VanNoy
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Pankaj B Agrawal
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Richard B Parad
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Heidi L Rehm
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August 2018
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a002873
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