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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:ASAP1

Variant:p.V620I

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ASAP1

NM_018482.4:p.V620I

hg38:chr8:130118183 C>T

Associated Papers

Exome sequencing improves the molecular diagnostics of paediatric unexplained neurodevelopmental disorders.

Wayhelova M et al.

Orphanet Journal of Rare Diseases, 2024

38321498 (PubMed )

Supplement: 13023_2024_3056_MOESM6_ESM.docx

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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."