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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCYT1A

Variant:p.E257D

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PCYT1A

NM_001312673.2:p.E257D

hg38:chr3:196239673 C>A

Associated Papers

Exploring the biological role of postzygotic and germinal de novo mutations in ASD.

Alonso-Gonzalez A et al.

Scientific Reports, 2021

33431980 (PubMed )

Supplement: 41598_2020_79412_MOESM1_ESM.xlsx › supplementary_table_14

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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."