Varaico: Literature-Extracted Genetic Variants

Gene:STXBP3
Variant:p.T419M
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STXBP3

NM_007269.4:p.T419M

Associated Papers

Proof of Concept for Genome Profiling of the Neurofibroma/Sarcoma Sequence in Neurofibromatosis Type 1.

Cannizzaro IR et al.

International Journal of Molecular Sciences, 2024

39409151 (PubMed )
Supplement: ijms-25-10822-s001.zip › Supplementary_Table_S1.xlsx › Ptumor_Prediction_scores

Variants in STXBP3 are Associated with Very Early Onset Inflammatory Bowel Disease, Bilateral Sensorineural Hearing Loss and Immune Dysregulation.

Ouahed J et al.

Journal of Crohn's & Colitis, 2021

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