Varaico: Literature-Extracted Genetic Variants

Gene:SPG21
Variant:p.P51fs
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SPG21

NM_016630.7:p.P51fs

Associated Papers

Elevated Bile Acid 3β,5α,6β-Trihydroxycholanoyl Glycine in a Subset of Adult Ataxias Including Niemann-Pick Type C.

Motamed-Gorji N et al.

Antioxidants (basel, Switzerland), 2024

38790666 (PubMed )
Supplement: antioxidants-13-00561-s001.zip › antioxidants-2844844-supplementary.pdf
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