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Allison R. Cale

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Case report Open access Aug 2026

Neuropathy With Demyelinating Features in a Patient With Biallelic HARS1 Variants

There is moderate evidence that the two identified HARS1 variants are responsible for the recessive phenotype, suggesting that the allelic and clinical heterogeneity of HARS1‐related disease is expanded.

Christina Del Greco, Allison R. Cale, Karl Haeberlein et al. · 0 citations