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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:SMAD3

Variant:p.W232_C233del0

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SMAD3

NM_005902.4:p.W232_C233del0

hg38:chr15:67181274 TCTGGTG>T

Associated Papers

Genotypic Categorization of Loeys-Dietz Syndrome Based on 24 Novel Families and Literature Data.

Camerota L et al.

Genes, 2019

31569402 (PubMed )

Supplement: genes-10-00764-s001.zip › Suppl.Table_S2_genes-592613_rev.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."