Varaico: Literature-Extracted Genetic Variants

Gene:MAML2
Variant:p.S462A
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MAML2

NM_032427.4:p.S462A

Associated Papers

Genetic and Clinical Characteristics of Difficult-To-Treat Crohn's Disease: Trio-Based Exome Sequencing in 24 Families.

Wu HB et al.

Journal of Digestive Diseases, 2025

Novel compound heterozygous variants in lectin mannose-binding 2-like gene identified in a Chinese autosomal recessive mental retardation-52 (MRT52) patient with phenotype expansion.

Zhou C et al.

Chinese Medical Journal, 2023

37667433 (PubMed )
Supplement: cm9-136-2107-s002.xls › SHEET

PTPRT and PTPRD Deleterious Mutations and Deletion Predict Bevacizumab Resistance in Metastatic Colorectal Cancer Patients.

Hsu HC et al.

Cancers, 2018

30200630 (PubMed )
Supplement: cancers-10-00314-s001.zip › cancers-335170-sup › Supplementary_Table_S2.xlsx › Supplementary_Table_2
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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."