Varaico: Literature-Extracted Genetic Variants

Gene:MEF2A
Variant:p.D410del1
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MEF2A

NM_001319206.4:p.D410del1

Associated Papers

Case report: Two unique nonsense mutations in HTRA1-related cerebral small vessel disease in a Chinese population and literature review.

Chen W et al.

Frontiers in Neurology, 2022

36619910 (PubMed )
Supplement: Data_Sheet_6.ZIP › case2-C › 3.________ › CA2275B________.____Exonic_Variants.xlsx › sheet1

Identification of potential pathogenic mutations in Chinese children with first branchial cleft anomalies detected by whole-exome sequencing.

Yang Y et al.

Pediatric Investigation, 2021

34589676 (PubMed )
Supplement: PED4-5-211-s001.pdf

Molecular characterization and integrative genomic analysis of a panel of newly established penile cancer cell lines.

Zhou QH et al.

Cell Death & Disease, 2018

29880898 (PubMed )
Supplement: 41419_2018_736_MOESM6_ESM.xlsx › Sheet1

Mutational Profiles Reveal an Aberrant TGF-β-CEA Regulated Pathway in Colon Adenomas.

Chen J et al.

Plos One, 2016

27100181 (PubMed )
Supplement: pone.0153933.s001.xlsx › WTS-adenoma_samples-First_Batch

Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.

Samorodnitsky E et al.

Human Mutation, 2015

26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-00017-Table_S23.xlsx › GATK
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