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January 1, 2026Genetics in Medicine OpenOpen Access

P413: Diagnosis of two conditions in a pediatric patient: DNAJC12-related hyperphenylalaninemia and Von Willebrand disease with bioinformatic reclassification of VWF variant

Jaime Viafara Belalcazar

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Jaime Viafara Belalcazar (2026) studied this question.

synapsesocial.com/papers/6a025ce5edf6f48138594aea https://doi.org/10.1016/j.gimo.2026.103907

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