RecName: Full=DNA-directed RNA polymerase III subunit RPC1; Short=RNA - Protein

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Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation. [Sci Rep. 2024]
Clinical phenotype and genetic function analysis of a family with hypomyelinating leukodystrophy-7 caused by POLR3A mutation.
Ruan DD, Ruan XL, Wang RL, Lin XF, Zhang YP, Lin B, Li SJ, Wu M, Chen Q, Zhang JH, et al. Sci Rep. 2024 Apr 1; 14(1):7638. Epub 2024 Apr 1.
Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A. [Mol Genet Genomic Med. 2024]
Further delineation of Wiedemann-Rautenstrauch syndrome linked with POLR3A.
Khan A, Al Shamsi B, Al Shehhi M, Kashgari AA, Al Balushi A, Al Dihan FA, Alghamdi MA, Manal A, González-Álvarez AC, Arold ST, et al. Mol Genet Genomic Med. 2024 Mar; 12(3):e2274. Epub 2024 Feb 13.
Distinguishing severe phenotypes associated with pathogenic variants in POLR3A. [Am J Med Genet A. 2022]
Distinguishing severe phenotypes associated with pathogenic variants in POLR3A.
Perrier S, Gauquelin L, Wambach JA, Bernard G. Am J Med Genet A. 2022 Feb; 188(2):708-712. Epub 2021 Nov 12.

RefSeq protein
See the reference protein sequence for DNA-directed RNA polymerase III subunit RPC1 (NP_008986.2).

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O14802 [Domain Mapping of Disease Mut...]
O14802
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
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PANTHER Classification System
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reagents [ExactAntigen/Labome]
reagents
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Protein