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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAST1

Variant:p.R229P

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MAST1

NM_014975.3:p.R229P

hg38:chr19:12847969 G>C

Associated Papers

Early-infantile developmental and epileptic encephalopathy: the aetiologies, phenotypic differences and outcomes-a prospective observational study.

Agarwala P et al.

Brain Communications, 2023

38074073 (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."