ribose-phosphate pyrophosphokinase 1 [Pan troglodytes]

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PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review. [Eur J Med Genet. 2020]
PRPS1 loss-of-function variants, from isolated hearing loss to severe congenital encephalopathy: New cases and literature review.
Mercati O, Abi Warde MT, Lina-Granade G, Rio M, Heide S, de Lonlay P, Ceballos-Picot I, Robert MP, Couloigner V, Beltrand J, et al. Eur J Med Genet. 2020 Nov; 63(11):104033. Epub 2020 Aug 8.
A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature. [Clin Rheumatol. 2020]
A novel mutation in gene of PRPS1 in a young Chinese woman with X-linked gout: a case report and review of the literature.
Yang BY, Yu HX, Min J, Song XX. Clin Rheumatol. 2020 Mar; 39(3):949-956. Epub 2019 Nov 26.
New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient. [Mol Genet Genomic Med. 2019]
New PRPS1 variant p.(Met68Leu) located in the dimerization area identified in a French CMTX5 patient.
Lerat J, Magdelaine C, Derouault P, Beauvais-Dzugan H, Bieth E, Acket B, Arne-Bes MC, Sturtz F, Lia AS. Mol Genet Genomic Med. 2019 Sep; 7(9):e875. Epub 2019 Jul 23.

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ribose-phosphate pyrophosphokinase 1 [Pan troglodytes]
ribose-phosphate pyrophosphokinase 1 [Pan troglodytes]
gi|114689771|ref|XP_001144504.1|

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