Varaico: Literature-Extracted Genetic Variants

Gene:SPRED1
Variant:p.G350fs
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SPRED1

NM_152594.3:p.G350fs

Associated Papers

Novel causative variants in Legius syndrome: SPRED1 Genotype spectrum expansion.

Chelleri C et al.

American Journal of Medical Genetics. Part A, 2024

Targeted DNA Sequencing of Cutaneous Melanoma Identifies Prognostic and Predictive Alterations.

Haugh AM et al.

Cancers, 2024

38611025 (PubMed )
Supplement: cancers-16-01347-s001.zip › cancers-2874995-supplementary.xlsx › TableS1

Molecular Features of Resected Melanoma Brain Metastases, Clinical Outcomes, and Responses to Immunotherapy.

Vasudevan HN et al.

Jama Network Open, 2023

37589977 (PubMed )
Supplement: jamanetwopen-e2329186-s001.xlsx › TableS1

SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype.

Pasmant E et al.

Journal of Medical Genetics, 2009

Longitudinal profiling of IDH-mutant astrocytomas reveals acquired RAS-MAPK pathway mutations associated with inferior survival.

Rodriguez Almaraz E et al.

Neuro-oncology Advances, 0

40051658 (PubMed )
Supplement: vdaf024_suppl_supplementary_tables_s1-s4.xlsx › Table_S2
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