Varaico: Literature-Extracted Genetic Variants

Gene:STX3
Variant:p.V122fs
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STX3

NM_004177.5:p.V122fs

Associated Papers

Uncovering the Relationship Between Genes and Phenotypes Beyond the Gut in Microvillus Inclusion Disease.

Sun M et al.

Cellular and Molecular Gastroenterology and Hepatology, 2024

Fetal Bowel Abnormalities Suspected by Ultrasonography in Microvillus Inclusion Disease: Prevalence and Clinical Significance.

Sun Y et al.

Journal of Clinical Medicine, 2022

35893420 (PubMed )
Supplement: jcm-11-04331-s001.zip › jcm-1723661-supplementary.pdf

Pathogenic STX3 variants affecting the retinal and intestinal transcripts cause an early-onset severe retinal dystrophy in microvillus inclusion disease subjects.

Janecke AR et al.

Human Genetics, 2021

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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."