kelch-like protein 7 isoform 1 [Homo sapiens]

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A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features. [Eur J Med Genet. 2020]
A novel PTC mutation in the BTB domain of KLHL7 gene in two patients with Bohring-Opitz syndrome-like features.
Cheraghi S, Moghbelinejad S, Najmabadi H, Kahrizi K, Najafipour R. Eur J Med Genet. 2020 Apr; 63(4):103849. Epub 2020 Jan 15.
Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa. [Orphanet J Rare Dis. 2019]
Novel mutations in the 3-box motif of the BACK domain of KLHL7 associated with nonsyndromic autosomal dominant retinitis pigmentosa.
Oh JK, Lima de Carvalho JR Jr, Sun YJ, Ragi S, Yang J, Levi SR, Ryu J, Bassuk AG, Mahajan VB, Tsang SH. Orphanet J Rare Dis. 2019 Dec 19; 14(1):295. Epub 2019 Dec 19.
Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases. [Eur J Med Genet. 2019]
Two siblings with a novel nonsense variant provide further delineation of the spectrum of recessive KLHL7 diseases.
Jeffries L, Olivieri JE, Ji W, Spencer-Manzon M, Bale A, Konstantino M, Lakhani SA. Eur J Med Genet. 2019 Sep; 62(9):103551. Epub 2018 Oct 6.

RefSeq genomic sequence
See the genomic reference sequence for the KLHL7 gene (NG_016983.3).
RefSeq mRNA
See reference mRNA sequence for the KLHL7 gene (NM_001031710.3).

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NP_001026880 [Domain Mapping of Disease Mut...]
NP_001026880
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
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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