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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAD2L1BP

Variant:p.A28delFs

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MAD2L1BP

NM_014628.3:p.A28delFs

hg38:chr6:43636416 GC>G

Associated Papers

Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease.

Mandich P et al.

Journal of Human Genetics, 2008

18379723 (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."