Varaico: Literature-Extracted Genetic Variants

Gene:DHX38
Variant:p.R324Q
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DHX38

NM_014003.4:p.R324Q

Associated Papers

Proteome-scale characterisation of motif-based interactome rewiring by disease mutations.

Kliche J et al.

Molecular Systems Biology, 2024

39009827 (PubMed )
Supplement: 44320_2024_55_MOESM5_ESM.xlsx › A-binding_peptides

A systematic review of inherited retinal dystrophies in Pakistan: updates from 1999 to April 2023.

Munir A et al.

Bmc Ophthalmology, 2024

Dhx38 is required for the maintenance and differentiation of erythro-myeloid progenitors and hematopoietic stem cells by alternative splicing.

Tu J et al.

Development (cambridge, England), 2022

An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data.

Cipriani V et al.

Genes, 2020

Confirmation of the Role of DHX38 in the Etiology of Early-Onset Retinitis Pigmentosa.

Latif Z et al.

Investigative Ophthalmology & Visual Science, 2018

A Novel Missense Variant C.2571 (P.Ala857=) of the DHX38 Gene in a Saudi Family Causes an Autosomal Recessive Retinitis Pigmentosa.

Al-Johani S et al.

Middle East African Journal of Ophthalmology, 0

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