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Author

Anil Kumar

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Review Open access Aug 2026

A Case Report and a Review of TRAPPC4‐Related TRAPPopathy

W Whole exome sequencing revealed a homozygous splice‐site variant (c.454+3A>G) in the TRAPPC4 gene, confirming the diagnosis of NEDESBA, and emphasizes the critical role of early molecular testing in achieving a precise diagnosis.

Anil Kumar, Ajay Kumar, Arvinder Wander et al. · 0 citations

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