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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TRPS1

Variant:p.C912Y

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TRPS1

NM_014112.5:p.C912Y

hg38:chr8:115418418 C>T

Associated Papers

Somatic mosaicism in trichorhinophalangeal syndrome: a lesson for genetic counseling.

Corsini C et al.

European Journal of Human Genetics : Ejhg, 2014

23572024 (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."