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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AFP

Variant:p.C124insFs

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AFP

NM_001134.3:p.C124insFs

hg38:chr4:73440700 C>CT

Associated Papers

At a glance: the largest Niemann-Pick type C1 cohort with 602 patients diagnosed over 15 years.

Guatibonza Moreno P et al.

European Journal of Human Genetics : Ejhg, 2023

37433892 (PubMed )

Supplement: 41431_2023_1408_MOESM1_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."