latent-transforming growth factor beta-binding protein 3 isoform 1 pre - Protein

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[IDENTIFICATION OF A NOVEL LTBP3 GENE PATHOGENIC VARIANT IN DRUZE ARAB PATIENTS PRESENTED WITH SYNDROMIC SHORT STATURE WITH BRACHYOLMIA AND AMELOGENESIS IMPERFECTA]. [Harefuah. 2023]
[IDENTIFICATION OF A NOVEL LTBP3 GENE PATHOGENIC VARIANT IN DRUZE ARAB PATIENTS PRESENTED WITH SYNDROMIC SHORT STATURE WITH BRACHYOLMIA AND AMELOGENESIS IMPERFECTA].
Hadid Y, Daher Z, Mahroum M, Shalata A, Nakhleh Francis Y, Shalata H, Broneshter Vinter R, Ziv M, Furman C, Ali V, et al. Harefuah. 2023 Jun; 162(6):352-358.
Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome. [Clin Genet. 2022]
Expanding genotypic and phenotypic spectrums of LTBP3 variants in dental anomalies and short stature syndrome.
Kantaputra P, Guven Y, Kalayci T, Özer PK, Panyarak W, Intachai W, Olsen B, Carlson BM, Praditsap O, Tongsima S, et al. Clin Genet. 2022 Jul; 102(1):66-71. Epub 2022 Mar 31.
Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections. [Orphanet J Rare Dis. 2021]
Novel LTBP3 mutations associated with thoracic aortic aneurysms and dissections.
Zhu G, Luo M, Chen Q, Zhang Y, Zhao K, Zhang Y, Shu C, Yang H, Zhou Z. Orphanet J Rare Dis. 2021 Dec 14; 16(1):513. Epub 2021 Dec 14.

RefSeq genomic sequence
See the genomic reference sequence for the LTBP3 gene (NG_016437.1).
RefSeq mRNA
See reference mRNA sequence for the LTBP3 gene (NM_001130144.3).
RefSeq protein isoforms
See 3 reference sequence protein isoforms for the LTBP3 gene.

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NP_001123616 [Domain Mapping of Disease Mut...]
NP_001123616
Domain Mapping of Disease Mutations
Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
OncoMX cancer biomarker resource [OncoMX cancer biomarker resou...]
OncoMX cancer biomarker resource
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
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reagent reviews
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reagents [ExactAntigen/Labome]
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ExactAntigen/Labome

Rattus norvegicus acrosin (Acr), mRNA
Rattus norvegicus acrosin (Acr), mRNA
gi|126723440|ref|NM_012490.2|

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Protein