Varaico: Literature-Extracted Genetic Variants

Gene:RGN
Variant:p.T46A
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RGN

NM_152869.4:p.T46A

Associated Papers

Mutations in PCYT2 disrupt etherlipid biosynthesis and cause a complex hereditary spastic paraplegia.

Vaz FM et al.

Brain : a Journal of Neurology, 2019

31637422 (PubMed )
Supplement: awz291_supplementary_data.zip › awz291-Suppl_data › Supplementary_Data2.pdf
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