Varaico: Literature-Extracted Genetic Variants

Gene:MCM3AP
Variant:p.I954T
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MCM3AP

NM_003906.5:p.I954T

Associated Papers

Identification of biallelic mutations in MCM3AP and comprehensive literature analysis.

Liu C et al.

Frontiers in Genetics, 2024

The diagnostic yield, candidate genes, and pitfalls for a genetic study of intellectual disability in 118 middle eastern families.

Al-Kasbi G et al.

Scientific Reports, 2022

36344539 (PubMed )
Supplement: 41598_2022_22036_MOESM2_ESM.xlsx › Table1

Distinct effects on mRNA export factor GANP underlie neurological disease phenotypes and alter gene expression depending on intron content.

Woldegebriel R et al.

Human Molecular Genetics, 2020

Recessive Charcot-Marie-Tooth and multiple sclerosis associated with a variant in MCM3AP.

Sedghi M et al.

Brain Communications, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."