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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAGEL2

Variant:p.E1057fs

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MAGEL2

NM_019066.5:p.E1057fs

hg38:chr15:23644574 CTC>N

Associated Papers

MAGEL2-related disorders: A study and case series.

Patak J et al.

Clinical Genetics, 2019

31397880 (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."