Varaico: Literature-Extracted Genetic Variants

Gene:EP400
Variant:p.Q2728del1
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EP400

NM_015409.5:p.Q2728del1

Associated Papers

Genetic Investigation of Consanguineous Pakistani Families Segregating Rare Spinocerebellar Disorders.

Saadi SM et al.

Genes, 2023

37510308 (PubMed )
Supplement: genes-14-01404-s001.zip › Table_S1.xlsx › Family_B__SACS_gene_

The orphan nuclear receptor NR0B2 could be a novel susceptibility locus associated with microsatellite-stable, APC mutation-negative early-onset colorectal carcinomas with metabolic manifestation.

Lam KK et al.

Genes, Chromosomes & Cancer, 2021

Clinicopathological characteristics and molecular abnormalities of primary grade 2 neuroendocrine tumors of the cervix.

Zhu R et al.

Diagnostic Pathology, 2019

Detection of Molecular Alterations in Taiwanese Patients with Medullary Thyroid Cancer Using Whole-Exome Sequencing.

Chang YS et al.

Endocrine Pathology, 2018

Somatic Ephrin Receptor Mutations Are Associated with Metastasis in Primary Colorectal Cancer.

Mathot L et al.

Cancer Research, 2017

28108514 (PubMed )
Supplement: 00085472can161921-sup-168924_1_supp_3776455_bhx39b.pdf
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