RecName: Full=Actin remodeling regulator NHS; AltName: Full=Congenital - Protein

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Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families. [Ophthalmic Genet. 2019]
Great clinical variability of Nance Horan syndrome due to deleterious NHS mutations in two unrelated Spanish families.
Hernández V, Pascual-Camps I, Aparisi MJ, Martínez-Matilla M, Martínez F, Cerón JA, Pedrola L. Ophthalmic Genet. 2019 Dec; 40(6):553-557. Epub 2019 Nov 22.
Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome. [BMC Med Genet. 2019]
Whole exome sequencing identified a novel truncation mutation in the NHS gene associated with Nance-Horan syndrome.
Ling C, Sui R, Yao F, Wu Z, Zhang X, Zhang S. BMC Med Genet. 2019 Jan 14; 20(1):14. Epub 2019 Jan 14.
A novel small deletion in the NHS gene associated with Nance-Horan syndrome. [Sci Rep. 2018]
A novel small deletion in the NHS gene associated with Nance-Horan syndrome.
Li H, Yang L, Sun Z, Yuan Z, Wu S, Sui R. Sci Rep. 2018 Feb 5; 8(1):2398. Epub 2018 Feb 5.

RefSeq genomic sequence
See the genomic reference sequence for the NHS gene (NG_011553.2).
RefSeq protein isoforms
See 8 reference sequence protein isoforms for the NHS gene.

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Q6T4R5 [Domain Mapping of Disease Mut...]
Q6T4R5
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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