Varaico: Literature-Extracted Genetic Variants

Gene:TERF1
Variant:p.E62del1
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TERF1

NM_017489.3:p.E62del1

Associated Papers

Germline Variants in Patients Affected by Both Uveal and Cutaneous Melanoma.

Johansson PA et al.

Pigment Cell & Melanoma Research, 2025

39315505 (PubMed )
Supplement: PCMR-38-0-s002.xlsx › Table_S2

Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.

Hadjipanteli A et al.

Genes, 2024

38255008 (PubMed )
Supplement: genes-15-00119-s001.zip › All_rare_variants_for_fetus_1__manuscript_supplementary_material_.xlsx › Variant_details

Whole Exome Sequencing to Find Candidate Variants for the Prediction of Kidney Transplantation Efficacy.

Aghamir SMK et al.

Genes, 2023

37372431 (PubMed )
Supplement: genes-14-01251-s001.zip › HGV__1.xlsx › _1

Clinical and Genomic Profiles of Korean Patients with MECOM Rearrangement and the t(3;21)(q26.2;q22.1) Translocation.

Lee J et al.

Annals of Laboratory Medicine, 2022

RUNX1 mutations in blast-phase chronic myeloid leukemia associate with distinct phenotypes, transcriptional profiles, and drug responses.

Adnan Awad S et al.

Leukemia, 2021

32782381 (PubMed )
Supplement: 41375_2020_1011_MOESM5_ESM.xlsx › Mutation_in_Australian_cohort

RBM10 Deficiency Is Associated With Increased Immune Activity in Lung Adenocarcinoma.

Liu B et al.

Frontiers in Oncology, 2021

34367963 (PubMed )
Supplement: Table_3.xlsx › Table_S3

Surgical and molecular characterization of primary and metastatic disease in a neuroendocrine tumor arising in a tailgut cyst.

Erdrich J et al.

Cold Spring Harbor Molecular Case Studies, 2018

30087100 (PubMed )
Supplement: supp_mcs.a003004_Supplemental_Tables.xlsx › Table_S11

Genetic analysis of CHARGE syndrome identifies overlapping molecular biology.

Moccia A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

29300383 (PubMed )
Supplement: NIHMS922117-supplement-Supplementary___Appendix__online_only_material__etc__.pdf
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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."