VARIANT: 7248v1 Help
Entry
Name
Type
Loss of function
Gene
Organism
hsa_var Human gene variants (Homo sapiens)
Variation
Network
Disease
H00896 Lymphangioleiomyomatosis
H00915 Tuberous sclerosis complex
H01251 Focal cortical dysplasia of Taylor
Reference
Authors
Sato T, Seyama K, Fujii H, Maruyama H, Setoguchi Y, Iwakami S, Fukuchi Y, Hino O
Title
Mutation analysis of the TSC1 and TSC2 genes in Japanese patients with pulmonary lymphangioleiomyomatosis.
Journal
Reference
Authors
Langkau N, Martin N, Brandt R, Zugge K, Quast S, Wiegele G, Jauch A, Rehm M, Kuhl A, Mack-Vetter M, Zimmerhackl LB, Janssen B
Title
TSC1 and TSC2 mutations in tuberous sclerosis, the associated phenotypes and a model to explain observed TSC1/ TSC2 frequency ratios.
Journal
Reference
Authors
Lugnier C, Majores M, Fassunke J, Pernhorst K, Niehusmann P, Simon M, Nellist M, Schoch S, Becker A
Title
Hamartin variants that are frequent in focal dysplasias and cortical tubers have reduced tuberin binding and aberrant subcellular distribution in vitro.
Journal
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