nipped-B-like protein isoform X4 [Homo sapiens]

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Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients. [Hum Mutat. 2022]
Deep intronic NIPBL de novo mutations and differential diagnoses revealed by whole genome and RNA sequencing in Cornelia de Lange syndrome patients.
Coursimault J, Cassinari K, Lecoquierre F, Quenez O, Coutant S, Derambure C, Vezain M, Drouot N, Vera G, Schaefer E, et al. Hum Mutat. 2022 Dec; 43(12):1882-1897. Epub 2022 Jul 23.
A Novel de Novo Variant in 5' UTR of the NIPBL Associated with Cornelia de Lange Syndrome. [Genes (Basel). 2022]
A Novel de Novo Variant in 5' UTR of the NIPBL Associated with Cornelia de Lange Syndrome.
Chen Y, Chen Q, Yuan K, Zhu J, Fang Y, Yan Q, Wang C. Genes (Basel). 2022 Apr 22; 13(5). Epub 2022 Apr 22.
Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion. [Proc Natl Acad Sci U S A. 2022]
Cornelia de Lange syndrome mutations in NIPBL can impair cohesin-mediated DNA loop extrusion.
Panarotto M, Davidson IF, Litos G, Schleiffer A, Peters JM. Proc Natl Acad Sci U S A. 2022 May 3; 119(18):e2201029119. Epub 2022 Apr 27.

RefSeq genomic sequence
See the genomic reference sequence for the NIPBL gene (NG_006987.2).
RefSeq mRNA
See reference mRNA sequence for the NIPBL gene (XM_017009329.2).
RefSeq protein isoforms
See 14 reference sequence protein isoforms for the NIPBL gene.

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Ensembl [Ensembl]
Ensembl
GlyGen glycoinformatics resource [GlyGen glycoinformatics resou...]
GlyGen glycoinformatics resource
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome
reagent reviews [ExactAntigen/Labome]
reagent reviews
ExactAntigen/Labome

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Protein