Varaico: Literature-Extracted Genetic Variants

Gene:MAML1
Variant:p.E553K
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MAML1

NM_014757.5:p.E553K

Associated Papers

Whole exome sequencing identifies potential candidate genes for spina bifida derived from mouse models.

Wang C et al.

American Journal of Medical Genetics. Part A, 2022

Actionable perturbations of damage responses by TCL1/ATM and epigenetic lesions form the basis of T-PLL.

Schrader A et al.

Nature Communications, 2018

29449575 (PubMed )
Supplement: 41467_2017_2688_MOESM20_ESM.xlsx › b__Freq_TP096

A Whole Exome Study Identifies Novel Candidate Genes for Vertebral Bone Marrow Signal Changes (Modic Changes).

Kraatari M et al.

Spine, 2017

De novo mutations in moderate or severe intellectual disability.

Hamdan FF et al.

Plos Genetics, 2014

25356899 (PubMed )
Supplement: pgen.1004772.s004.xlsx › 79.65

Integrated mRNA and microRNA transcriptome sequencing characterizes sequence variants and mRNA-microRNA regulatory network in nasopharyngeal carcinoma model systems.

Szeto CY et al.

Febs Open Bio, 2014

24490137 (PubMed )
Supplement: mmc5.xlsx › all_info
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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."