BOS complex subunit TMEM147 isoform 1 [Homo sapiens]

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A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity. [Neurogenetics. 2023]
A biallelic loss-of-function variant in TMEM147 causes profound intellectual disability and spasticity.
Ghorashi T, Darvish H, Bakhtiari S, Tafakhori A, Kruer MC, Mozdarani H. Neurogenetics. 2023 Oct; 24(4):311-316. Epub 2023 Sep 5.
TMEM147 Correlates with Immune Infiltration and Serve as a Potential Prognostic Biomarker in Hepatocellular Carcinoma. [Anal Cell Pathol (Amst). 2023]
TMEM147 Correlates with Immune Infiltration and Serve as a Potential Prognostic Biomarker in Hepatocellular Carcinoma.
Cheng S, Li J, Xu M, Bao Q, Wu J, Sun P, Han B. Anal Cell Pathol (Amst). 2023; 2023:4413049. Epub 2023 Jun 3.
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly. [Am J Hum Genet. 2022]
Bi-allelic loss-of-function variants in TMEM147 cause moderate to profound intellectual disability with facial dysmorphism and pseudo-Pelger-Huët anomaly.
Thomas Q, Motta M, Gautier T, Zaki MS, Ciolfi A, Paccaud J, Girodon F, Boespflug-Tanguy O, Besnard T, Kerkhof J, et al. Am J Hum Genet. 2022 Oct 6; 109(10):1909-1922. Epub 2022 Aug 30.

RefSeq mRNA
See reference mRNA sequence for the TMEM147 gene (NM_032635.4).
RefSeq protein isoforms
See 3 reference sequence protein isoforms for the TMEM147 gene.

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NP_116024
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
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OncoMX cancer biomarker resource
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Transcript/Protein Information
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reagents [ExactAntigen/Labome]
reagents
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