Varaico: Literature-Extracted Genetic Variants

Gene:SPRED1
Variant:p.Q215*
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SPRED1

NM_152594.3:p.Q215*

Associated Papers

Identification of five novel SPRED1 germline mutations in Legius syndrome.

Laycock-van Spyk S et al.

Clinical Genetics, 2011

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

Pasmant E et al.

Journal of Medical Genetics, 2009

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype.

Brems H et al.

Nature Genetics, 2007

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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."