DSCR5c [Homo sapiens]

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Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome. [Clin Genet. 2023]
Expanding the phenotype of PIGP deficiency to multiple congenital anomalies-hypotonia-seizures syndrome.
Martín-Grau C, Orellana Alonso C, Roselló Piera M, Pedrola Vidal L, Llorens-Salvador R, Quiroga R, Marín Reina P, Rubio Moll JS, Gómez Portero R, Martínez-Castellano F. Clin Genet. 2023 Aug; 104(2):245-250. Epub 2023 May 1.
Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations. [Neurol Genet. 2020]
Early infantile epileptic-dyskinetic encephalopathy due to biallelic PIGP mutations.
Vetro A, Pisano T, Chiaro S, Procopio E, Guerra A, Parrini E, Mei D, Virdò S, Mangone G, Azzari C, et al. Neurol Genet. 2020 Feb; 6(1):e387. Epub 2020 Jan 2.
Biallelic mutations in PIGP cause developmental and epileptic encephalopathy. [Ann Clin Transl Neurol. 2019]
Biallelic mutations in PIGP cause developmental and epileptic encephalopathy.
Krenn M, Knaus A, Westphal DS, Wortmann SB, Polster T, Woermann FG, Karenfort M, Mayatepek E, Meitinger T, Wagner M, et al. Ann Clin Transl Neurol. 2019 May; 6(5):968-973. Epub 2019 Apr 11.

RefSeq protein isoforms
See 4 reference sequence protein isoforms for the PIGP gene.

Nucleotide
Nucleotide sequence from coding region
PubMed
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Taxonomy
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BioSystems
BioSystems
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PubMed (Weighted)
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Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

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Protein