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Shortcast: TFP deficiency caused by a deep intronic deletion leading to aberrant splicing

EPISODE · Feb 19, 2025 · 3 MIN

Shortcast: TFP deficiency caused by a deep intronic deletion leading to aberrant splicing

from JIMD Podcasts · host Journal of Inherited Metabolic Disease

Dr Thomas Cassini explains how the Undiagnosed Diseases Network group used advanced sequencing techniques to clarify the genotype in a child with an unusual phenotype for mitochondrial trifunctional protein deficiency. Mitochondrial trifunctional protein deficiency caused by a deep intronic deletion leading to aberrant splicing Thomas Cassini, et al https://doi.org/10.1002/jmd2.12459

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Shortcast: TFP deficiency caused by a deep intronic deletion leading to aberrant splicing

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