Varaico: Literature-Extracted Genetic Variants

Gene:TJP1
Variant:p.M1V
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TJP1

NM_001330239.4:p.M1V

Associated Papers

Genetic Mutations in Cell Junction Proteins Associated with Brain Calcification.

Yang D et al.

Movement Disorders : Official Journal of the Movement Disorder Society, 2025

Unveiling the Spectrum of Minor Genes in Cardiomyopathies: A Narrative Review.

Micolonghi C et al.

International Journal of Molecular Sciences, 2024

Deafness DFNB128 Associated with a Recessive Variant of Human MAP3K1 Recapitulates Hearing Loss of Map3k1-Deficient Mice.

Faridi R et al.

Genes, 2024

39062623 (PubMed )
Supplement: genes-15-00845-s001.zip › genes-3045527-Table_S4.xlsx › PKDF1419_SumandMuh_121423_Genet
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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."