Varaico: Literature-Extracted Genetic Variants

Gene:SPRED1
Variant:p.Y14Y
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SPRED1

NM_152594.3:p.Y14Y

Associated Papers

Review and update of SPRED1 mutations causing Legius syndrome.

Brems H et al.

Human Mutation, 2012

Identification of five novel SPRED1 germline mutations in Legius syndrome.

Laycock-van Spyk S et al.

Clinical Genetics, 2011

Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome.

Messiaen L et al.

Jama, 2009

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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."