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Article

Establishing intellectual disability as the key feature of patients with biallelic RNPC3 variants.

American journal of medical genetics. Part A - 1 Jun 2021

Yamada Mamiko, Ono Masae, Ishii Tomohiro, Suzuki Hisato, Uehara Tomoko, Takenouchi Toshiki, Kosaki Kenjiro

Abstract excerpt

Some mammalian genes contain both major and minor introns, the splicing of which require distinctive major and minor spliceosomes, respectively; these genes are referred to as minor intron containing-genes. RNPC3 (RNA-binding domain-containing protein 3) is one of the proteins that are unique to the minor spliceosome U11/U12 di-snRNP. Only two families with biallelic pathogenic variants in the RNPC3 gene encoding...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 33650182
DOI: 10.1002/ajmg.a.62152

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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