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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TCF4

Variant:p.L390_R392Fs

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TCF4

NM_001083962.2:p.L390_R392Fs

hg38:chr18:55254672 CTTTCTA>TTT

Associated Papers

The utility of Next Generation Sequencing for molecular diagnostics in Rett syndrome.

Vidal S et al.

Scientific Reports, 2017

28947817 (PubMed )

Supplement: 41598_2017_11620_MOESM1_ESM.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."