Varaico: Literature-Extracted Genetic Variants

Gene:ATL1
Variant:p.R403fs
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ATL1

NM_015915.5:p.R403fs

Associated Papers

Patients with complex and very-early-onset ATL1-related spastic paraplegia offer insights on genotype/phenotype correlations and support for autosomal recessive forms of SPG3A.

Hamamie-Chaar A et al.

Journal of Neurology, 2024

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