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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ADPRS

Variant:p.L127P

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ADPRS

NM_017825.3:p.L127P

hg38:chr1:36091689 T>C

Associated Papers

Repurposing doxycycline for a case of CONDSIAS Syndrome with a novel ADPRHL2 missense mutation.

Eslamiyeh H et al.

Acta Neurologica Belgica, 2025

39417910 (PubMed )

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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."