[Analysis of EEF1A2 gene variant in a child with Global developmental delay].

The c.44A>G (p.H15R) variant of the EEF1A2 gene probably underlay the pathogenesis in this patient. Above finding has also enriched the mutational spectrum of the EEF1A2 gene.

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Publication Details

Journal
PubMed
Published
2024-11-10
DOI
https://doi.org/10.3760/cma.j.cn511374-20211001-00795
Primary Topic
Congenital Heart Disease Studies
Type
article
Field-Weighted Citation Impact
0.00
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article

[Analysis of EEF1A2 gene variant in a child with Global developmental delay].

Haofeng Ning, Yuqiong Chai, Yanan Wang, Wei Huang
PubMed
Congenital Heart Disease Studies
article

[Analysis of EEF1A2 gene variant in a child with Global developmental delay].

Haofeng Ning, Yuqiong Chai, Yanan Wang, Wei Huang
article en

Abstract

The c.44A>G (p.H15R) variant of the EEF1A2 gene probably underlay the pathogenesis in this patient. Above finding has also enriched the mutational spectrum of the EEF1A2 gene.

PubMedVol. 41(11)
Luoyang Orthopedic-Traumatological Hospital of Henan Province (CN)
Openalex Percentile: Top 69%
Congenital Heart Disease Studies
DOISourceOpenAlex
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[Analysis of EEF1A2 gene variant in a child with Global developmental delay]. — Haofeng Ning, Yuqiong Chai, et al. · PubMed (2024) | TGRS Research Map | TGRS