Varaico: Literature-Extracted Genetic Variants

Gene:EOMES
Variant:p.A126_A127del1
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EOMES

NM_001278182.2:p.A126_A127del1

Associated Papers

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table1.XLS › Sheet

Variant profiling of colorectal adenomas from three patients of two families with MSH3-related adenomatous polyposis.

Perne C et al.

Plos One, 2021

34843512 (PubMed )
Supplement: pone.0259185.s010.xlsx › Tabelle1
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