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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRPS1

Variant:p.E483delFs

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TRPS1

NM_014112.5:p.E483delFs

hg38:chr8:115604519 AC>A

Associated Papers

Analysis of novel and recurrent mutations responsible for the tricho-rhino-phalangeal syndromes.

Hilton MJ et al.

Journal of Human Genetics, 2002

11950061 (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."