Varaico: Literature-Extracted Genetic Variants

Gene:TRIM71
Variant:p.D624N
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TRIM71

NM_001039111.3:p.D624N

Associated Papers

The RNA-binding protein TRIM71 is essential for hearing in humans and mice and times auditory sensory organ development.

Li XJ et al.

Proceedings of the National Academy of Sciences of the United States of America, 2025

The RNA-binding protein TRIM71 is essential for hearing in humans and mice and regulates the timing of auditory sensory organ development.

Li XJ et al.

Biorxiv : the Preprint Server for Biology, 2025

TRIM71 mutations cause a neurodevelopmental syndrome featuring ventriculomegaly and hydrocephalus.

Duy PQ et al.

Brain : a Journal of Neurology, 2024

Molecular mechanism governing RNA-binding property of mammalian TRIM71 protein.

Shi F et al.

Science Bulletin, 2024

De novo variants in genes regulating stress granule assembly associate with neurodevelopmental disorders.

Jia X et al.

Science Advances, 2022

35977029 (PubMed )
Supplement: sciadv.abo7112_data_s1_to_s8.zip › sciadv.abo7112_data_s1_to_s8.xlsx › Table_S7._DNM_in_SG_genes

Impaired neurogenesis alters brain biomechanics in a neuroprogenitor-based genetic subtype of congenital hydrocephalus.

Duy PQ et al.

Nature Neuroscience, 2022

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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."