Article

Partial Biotinidase Deficiency and the Effect of Hypomorphic Variants: Resolving a Diagnostic Odyssey through Functional Validation

2026-06-03

Abstract excerpt

The widespread implementation of next-generation sequencing (NGS) has revolution-ized clinical genetics, yet the identification of variants of uncertain significance (VUS) frequently hinders definitive diagnoses. Here, we report the molecular and functional characterization of a novel BTD missense variant to resolve a complex six-year diagnostic odyssey in a patient with suspected partial biotinidase (BTD) deficie...

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Literature Corpus work: 462fd8ee-6aa3-5859-90a6-e92a229d5aa9
DOI: 10.20944/preprints202606.0298.v1

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