ArticleHuman genome variation2017
A novel
Article in Human genome variation, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
15 citing papers in PubMed.
- Benchmarking In-Cell Proteomics for Profiling Neuroblastoma Cell Differentiation and the Ubiquitin-Proteasome System.Journal of proteome research · 2025Article
- [A large family of Nascimento form of syndromic X-linked intellectual developmental disorder caused by large segment deletion of theZhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2025Review
- UBE2A and UBE2B are recruited by an atypical E3 ligase module in UBR4.Nature structural & molecular biology · 2024Article
- Unbalanced redox status network as an early pathological event in congenital cataracts.Redox biology · 2023Article
- Activity-based probe profiling of RNF12 E3 ubiquitin ligase function in Tonne-Kalscheuer syndrome.Life science alliance · 2022Article
- A novel UBE2A splice site variant causing intellectual disability type Nascimento.Clinical case reports · 2022Article
- A novel method for isolating lymphatic endothelial cells from lymphatic malformations and detecting PIK3CA somatic mutation in these isolated cells.Surgery today · 2021Article
- Dynamic transcriptome landscape in the song nucleus HVC between juvenile and adult zebra finches.Advanced genetics (Hoboken, N.J.) · 2021Article
- Article
- A novel splice site mutation in the UBE2A gene leads to aberrant mRNA splicing in a Chinese patient with X-linked intellectual disability type Nascimento.Molecular genetics & genomic medicine · 2019Article
- Discordant phenotype caused byHuman genome variation · 2019Article
- Mechanistic insights revealed by a UBE2A mutation linked to intellectual disability.Nature chemical biology · 2019Article
- UBE2A-related X-linked intellectual disability.Clinical dysmorphology · 2019Article
- Familial total anomalous pulmonary venous return with 15q11.2 (BP1-BP2) microdeletion.Journal of human genetics · 2018Article
- RNF12 X-Linked Intellectual Disability Mutations Disrupt E3 Ligase Activity and Neural Differentiation.Cell reports · 2018Article
Corrections and comments
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Authors and funding
7 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked intellectual disability (ID) type Nascimento (MIM #300860), also known as ubiquitin-conjugating enzyme E2 A (UBE2A) deficiency syndrome, is a congenital malformation syndrome characterized by moderate to severe ID, speech impairment, dysmorphic facial features, genital anomalies and skin abnormalities. Here, we report a Japanese patient with severe ID and congenital cataract. We identified a novel hemizygous mutation (c.76G>A, p.Gly26Arg) in
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.