Varaico: Literature-Extracted Genetic Variants

Gene:GJA1
Variant:p.R370H
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GJA1

NM_000165.5:p.R370H

Associated Papers

Exome Sequencing Reveals the Genetic Architecture of Non-syndromic Orofacial Clefts and Identifies BOC as a Novel Causal Gene.

He Q et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

40464334 (PubMed )
Supplement: ADVS-12-e12073-s004.xlsx › Sheet1

Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis.

Fioretti T et al.

Biomedicines, 2024

38791074 (PubMed )
Supplement: biomedicines-12-01112-s001.zip › biomedicines-2972903-SM_final › Supplementary_files › SUPPLEMENTARY_Table_S2.pdf
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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."