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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAD2L1BP

Variant:p.S251F

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MAD2L1BP

NM_014628.3:p.S251F

hg38:chr6:43640460 C>T

Associated Papers

Charcot-Marie-Tooth disease: genetic and clinical spectrum in a Spanish clinical series.

Sivera R et al.

Neurology, 2013

24078732 (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."