Varaico: Literature-Extracted Genetic Variants

Gene:SPG21
Variant:p.P51delFs
Back to variants list

SPG21

NM_016630.7:p.P51delFs

Associated Papers

Diagnostic yield and limitations of whole-genome sequencing for hereditary cerebellar ataxia.

Yau WY et al.

Brain Communications, 2025

40488180 (PubMed )
Supplement: fcaf188_supplementary_data.pdf

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
Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."