N-acetylgalactosamine-6-sulfatase isoform 2 [Homo sapiens] -

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Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family. [Genes (Basel). 2022]
Exome Sequencing Identifies a Biallelic GALNS Variant (p.Asp233Asn) Causing Mucopolysaccharidosis Type IVA in a Pakistani Consanguineous Family.
Ghafoor S, Silveira KDC, Qamar R, Azam M, Kannu P. Genes (Basel). 2022 Sep 27; 13(10). Epub 2022 Sep 27.
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome. [BMC Genomics. 2022]
The GALNS p.P77R variant is a probable Gujarati-Indian founder mutation causing Mucopolysaccharidosis IVA syndrome.
Sheth H, Naik P, Shah M, Bhavsar R, Nair A, Sheth F, Sheth J. BMC Genomics. 2022 Jun 21; 23(1):458. Epub 2022 Jun 21.
Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA. [J Inherit Metab Dis. 2022]
Investigation of GALNS variants and genotype-phenotype correlations in a large cohort of patients with mucopolysaccharidosis type IVA.
Yi M, Wang Y, Gao X, Han L, Qiu W, Gu X, Maegawa GHB, Zhang H. J Inherit Metab Dis. 2022 May; 45(3):593-604. Epub 2022 Mar 7.

RefSeq genomic sequence
See the genomic reference sequence for the GALNS gene (NG_008667.1).
RefSeq mRNA
See reference mRNA sequence for the GALNS gene (NM_001323544.2).
RefSeq protein isoforms
See 19 reference sequence protein isoforms for the GALNS gene.

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Protein