Varaico: Literature-Extracted Genetic Variants

Gene:TRPS1
Variant:p.R921*
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TRPS1

NM_014112.5:p.R921*

Associated Papers

Whole-Exome Sequencing Characterized the Landscape of Somatic Mutations and Pathways in Colorectal Cancer Liver Metastasis.

Feng L et al.

Journal of Oncology, 2019

31814826 (PubMed )
Supplement: 2684075.f1.zip › 2684075.f1 › Supplemental_Table_2.xlsx › Sheet1

Syndrome disintegration: Exome sequencing reveals that Fitzsimmons syndrome is a co-occurrence of multiple events.

Armour CM et al.

American Journal of Medical Genetics. Part A, 2016

Phenotype and genotype in 103 patients with tricho-rhino-phalangeal syndrome.

Maas SM et al.

European Journal of Medical Genetics, 2015

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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."