RecName: Full=RNA-binding region-containing protein 3; AltName: Full=R - Protein

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Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency. [Genet Med. 2022]
Pathogenic variants in RNPC3 are associated with hypopituitarism and primary ovarian insufficiency.
Akin L, Rizzoti K, Gregory LC, Corredor B, Le Quesne Stabej P, Williams H, Buonocore F, Mouilleron S, Capra V, McGlacken-Byrne SM, et al. Genet Med. 2022 Feb; 24(2):384-397. Epub 2021 Nov 30.
Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants. [Am J Med Genet A. 2021]
Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants.
Yamada M, Ono M, Ishii T, Suzuki H, Uehara T, Takenouchi T, Kosaki K. Am J Med Genet A. 2021 Jun; 185(6):1836-1840. Epub 2021 Mar 1.
Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency. [Am J Med Genet A. 2020]
Expanding the phenotype of biallelic RNPC3 variants associated with growth hormone deficiency.
Verberne EA, Faries S, Mannens MMAM, Postma AV, van Haelst MM. Am J Med Genet A. 2020 Aug; 182(8):1952-1956. Epub 2020 May 28.

RefSeq protein
See the reference protein sequence for RNA-binding region-containing protein 3 (NP_060089.1).

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Q96LT9 [Domain Mapping of Disease Mut...]
Q96LT9
Domain Mapping of Disease Mutations
Transcript/Protein Information [PANTHER Classification System]
Transcript/Protein Information
PANTHER Classification System
Reactome [Reactome]
Reactome
reagents [ExactAntigen/Labome]
reagents
ExactAntigen/Labome

RecName: Full=RNA-binding region-containing protein 3; AltName: Full=RNA-binding...
RecName: Full=RNA-binding region-containing protein 3; AltName: Full=RNA-binding motif protein 40; Short=RNA-binding protein 40; AltName: Full=U11/U12 small nuclear ribonucleoprotein 65 kDa protein; Short=U11/U12 snRNP 65 kDa protein; Short=U11/U12-65K
gi|74760946|sp|Q96LT9.1|RNPC3_HUMAN

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