hamartin isoform 1 [Homo sapiens]

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Role of TSC1 in physiology and diseases. [Mol Cell Biochem. 2021]
Role of TSC1 in physiology and diseases.
Mallela K, Kumar A. Mol Cell Biochem. 2021 Jun; 476(6):2269-2282. Epub 2021 Feb 11.
TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: Identification of two aberrant transcripts. [Eur J Med Genet. 2020]
TSC1 intragenic deletion transmitted from a mosaic father to two siblings with cardiac rhabdomyomas: Identification of two aberrant transcripts.
Uchiyama H, Masunaga Y, Ishikawa T, Fukuoka T, Fukami M, Saitsu H, Ogata T. Eur J Med Genet. 2020 Nov; 63(11):104060. Epub 2020 Sep 2.
A novel TSC1 frameshift mutation c.1550_1551del causes tuberous sclerosis complex by aberrant splicing and nonsense-mediated mRNA degradation (NMD) simultaneously in a Chinese family. [Mol Genet Genomic Med. 2020]
A novel TSC1 frameshift mutation c.1550_1551del causes tuberous sclerosis complex by aberrant splicing and nonsense-mediated mRNA degradation (NMD) simultaneously in a Chinese family.
Qiu C, Li C, Tong X, Dai L, Liu W, Xie Y, Zhang Q, Yang G, Li T. Mol Genet Genomic Med. 2020 Oct; 8(10):e1410. Epub 2020 Jul 31.

RefSeq genomic sequence
See the genomic reference sequence for the TSC1 gene (NG_012386.1).
RefSeq mRNA
See reference mRNA sequence for the TSC1 gene (NM_000368.5).
RefSeq protein isoforms
See 45 reference sequence protein isoforms for the TSC1 gene.

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NP_000359 [Domain Mapping of Disease Mut...]
NP_000359
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF) [MODBASE, Database of Comparat...]
MODBASE, Database of Comparative Protein Structure Models (Sali Lab/UCSF)
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
Find Quality Antibodies [GeneTex Inc]
Find Quality Antibodies
GeneTex Inc

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