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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TGFBR2

Variant:p.F294_S295del1

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TGFBR2

NM_003242.6:p.F294_S295del1

hg38:chr3:30672060 ATCT>A

Associated Papers

Genotype-Phenotype Comparison in POGZ-Related Neurodevelopmental Disorders by Using Clinical Scoring.

Nagy D et al.

Genes, 2022

35052493 (PubMed )

Supplement: genes-13-00154-s001.zip › SUPPLEMENTARY_TABLE_REVISED.xlsx › A_Phenotype_of_present_patients

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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."