Varaico: Literature-Extracted Genetic Variants

Gene:RET
Variant:p.E762Splc
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RET

NM_020975.6:p.E762Splc

Associated Papers

Translational and clinical comparison of whole genome and transcriptome to panel sequencing in precision oncology.

Kerle IA et al.

Npj Precision Oncology, 2025

39794422 (PubMed )
Supplement: 41698_2024_788_MOESM7_ESM.xlsx › patient_10_panel_small_variants

Variability in Medullary Thyroid Carcinoma in RET L790F Carriers: A Case Comparison Study of Index Patients.

Mathiesen JS et al.

Frontiers in Endocrinology, 2020

Determination of RET Sequence Variation in an MEN2 Unaffected Cohort Using Multiple-Sample Pooling and Next-Generation Sequencing.

Margraf RL et al.

Journal of Thyroid Research, 2012

Variant identification in multi-sample pools by illumina genome analyzer sequencing.

Margraf RL et al.

Journal of Biomolecular Techniques : Jbt, 2011

Multi-sample pooling and illumina genome analyzer sequencing methods to determine gene sequence variation for database development.

Margraf RL et al.

Journal of Biomolecular Techniques : Jbt, 2010

A complex additive model of inheritance for Hirschsprung disease is supported by both RET mutations and predisposing RET haplotypes.

Ruiz-Ferrer M et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2006

Novel intronic polymorphisms in the RET proto-oncogene and their association with Hirschsprung disease.

Fitze G et al.

Human Mutation, 2003

A rare haplotype of the RET proto-oncogene is a risk-modifying allele in hirschsprung disease.

Griseri P et al.

American Journal of Human Genetics, 2002

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