Varaico: Literature-Extracted Genetic Variants

Gene:SPRED1
Variant:p.T102fs
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SPRED1

NM_152594.3:p.T102fs

Associated Papers

The immune response-related genomic alterations in patients with malignant melanoma.

Li L et al.

Medicine, 2024

38669390 (PubMed )
Supplement: medi-103-e37966-s001.xlsx › Sheet1

Legius Syndrome and Inflammatory Bowel Disease: A Pediatric Case Report.

Paixao F et al.

Cureus, 2023

Central precocious puberty in a girl with LEGIUS syndrome: an accidental association?

Orlandi V et al.

Italian Journal of Pediatrics, 2021

Legius syndrome, an Update. Molecular pathology of mutations in SPRED1.

Brems H et al.

The Keio Journal of Medicine, 2013

Review and update of SPRED1 mutations causing Legius syndrome.

Brems H et al.

Human Mutation, 2012

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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."