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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAD2L1BP

Variant:p.L89P

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MAD2L1BP

NM_014628.3:p.L89P

hg38:chr6:43636600 T>C

Associated Papers

Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.

Record CJ et al.

Brain : a Journal of Neurology, 2023

37284795 (PubMed )

Supplement: awad187_supplementary_data.zip › Supp_data_2_working_v2.pdf

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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."