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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MLYCD

Variant:p.G24delFs

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MLYCD

NM_012213.3:p.G24delFs

hg38:chr16:83899213 CGG>C

Associated Papers

Rubinstein-Taybi 2 associated to novel EP300 mutations: deepening the clinical and genetic spectrum.

López M et al.

Bmc Medical Genetics, 2018

29506490 (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."