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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:AMN

Variant:p.L281_P282Splc

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AMN

NM_030943.4:p.L281_P282Splc

hg38:chr14:102929923 G>C

Associated Papers

[Our experience in the diagnosis of peroxisomal diseases with an abnormal fatty acid profile].

López-Pisón J et al.

Revista De Neurologia, 0

18592472 (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."