RecName: Full=Semaphorin-6B; AltName: Full=Semaphorin-Z; Short=Sema Z; - Protein

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Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes. [Epilepsia Open. 2023]
Progressive myoclonus epilepsies due to SEMA6B mutations. New variants and appraisal of published phenotypes.
Castellotti B, Canafoglia L, Freri E, Tappatà M, Messina G, Magri S, DiFrancesco JC, Fanella M, Di Bonaventura C, Morano A, et al. Epilepsia Open. 2023 Jun; 8(2):645-650. Epub 2023 Feb 9.
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance. [Hum Mol Genet. 2022]
SEMA6B variants cause intellectual disability and alter dendritic spine density and axon guidance.
Cordovado A, Schaettin M, Jeanne M, Panasenkava V, Denommé-Pichon AS, Keren B, Mignot C, Doco-Fenzy M, Rodan L, Ramsey K, et al. Hum Mol Genet. 2022 Sep 29; 31(19):3325-3340.
A Frameshift Variant in the SEMA6B Gene Causes Global Developmental Delay and Febrile Seizures. [Neurosci Bull. 2021]
A Frameshift Variant in the SEMA6B Gene Causes Global Developmental Delay and Febrile Seizures.
Shu L, Xu Y, Tian Q, Chen Y, Wang Y, Xi H, Wang H, Xiao N, Mao X. Neurosci Bull. 2021 Sep; 37(9):1357-1360. Epub 2021 Jun 10.

RefSeq protein
See the reference protein sequence for semaphorin-6B precursor (NP_115484.2).

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Q9H3T3 [Domain Mapping of Disease Mut...]
Q9H3T3
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagent reviews [ExactAntigen/Labome]
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reagents [ExactAntigen/Labome]
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RecName: Full=Semaphorin-6B; AltName: Full=Semaphorin-Z; Short=Sema Z; Flags: Pr...
RecName: Full=Semaphorin-6B; AltName: Full=Semaphorin-Z; Short=Sema Z; Flags: Precursor
gi|116242786|sp|Q9H3T3.4|SEM6B_HUMA

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