Varaico: Literature-Extracted Genetic Variants

Gene:EP400
Variant:p.D910delFs
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EP400

NM_015409.5:p.D910delFs

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_

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

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