Varaico: Literature-Extracted Genetic Variants

Gene:LAD1
Variant:p.T285A
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LAD1

NM_005558.4:p.T285A

Associated Papers

Biallelic mutations in neurofascin cause neurodevelopmental impairment and peripheral demyelination.

Efthymiou S et al.

Brain : a Journal of Neurology, 2019

31501903 (PubMed )
Supplement: awz248_supplementary_data.zip › awz248-Suppl_data › Supplementary_Data4.pdf
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