Associated Papers
Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma.
Johansson PA et al.
Pigment Cell & Melanoma Research, 2025
39315505 (PubMed )
Supplement: PCMR-38-0-s002.xlsx › Table_S2
Identification of Genetic Predisposition in Noncirrhotic Portal Hypertension Patients With Multiple Renal Cysts by Integrated Analysis of Whole-Genome and Single-Cell RNA Sequencing.
Wu Y et al.
Frontiers in Genetics, 2021
34868264 (PubMed )
Supplement: Table2.XLSX › Sheet1
Interaction between a Domain of the Negative Regulator of the Ras-ERK Pathway, SPRED1 Protein, and the GTPase-activating Protein-related Domain of Neurofibromin Is Implicated in Legius Syndrome and Neurofibromatosis Type 1.
Hirata Y et al.
The Journal of Biological Chemistry, 2016
Review and update of SPRED1 mutations causing Legius syndrome.
Brems H et al.
Human Mutation, 2012
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