Varaico: Literature-Extracted Genetic Variants

Gene:ERICH3
Variant:p.P407L
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ERICH3

NM_001002912.5:p.P407L

Associated Papers

Sézary syndrome originates from heavily mutated hematopoietic progenitors.

Harro CM et al.

Blood Advances, 2023

37531660 (PubMed )
Supplement: BLOODA_ADV-2022-008562-mmc1.pdf

Analysis of high-risk pedigrees identifies 11 candidate variants for Alzheimer's disease.

Teerlink CC et al.

Alzheimer's & Dementia : the Journal of the Alzheimer's Association, 2022

34151536 (PubMed )
Supplement: ALZ-18-307-s002.xlsx › Predicted_Deleterious_Filter

Germline Mutation in MUS81 Resulting in Impaired Protein Stability is Associated with Familial Breast and Thyroid Cancer.

Pinheiro M et al.

Cancers, 2020

32443704 (PubMed )
Supplement: cancers-12-01289-s001.zip › cancers-768495_-Supplementary_Tables_.xlsx › Table_S2

Genetic Aberration Analysis in Thai Colorectal Adenoma and Early-Stage Adenocarcinoma Patients by Whole-Exome Sequencing.

Intarajak T et al.

Cancers, 2019

31336886 (PubMed )
Supplement: cancers-11-00977-s001.zip › supplementary_file › supplementary_table_2.xlsx › somatic_normal_tumor

NR5A1 is a novel disease gene for 46,XX testicular and ovotesticular disorders of sex development.

Baetens D et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2017

27490115 (PubMed )
Supplement: gim2016118x1.zip › Table_S13-S17.xlsx › Table_S16
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