Varaico: Literature-Extracted Genetic Variants

Gene:CARMIL2
Variant:p.T818I
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CARMIL2

NM_001013838.3:p.T818I

Associated Papers

Case report: Genetic analysis of a novel intronic inversion variant in the SPTB gene associated with hereditary spherocytosis.

Xi B et al.

Frontiers in Genetics, 2023

38111681 (PubMed )
Supplement: Table1.pdf

Clinical and Genetic Analysis of CHD7 Expands the Genotype and Phenotype of CHARGE Syndrome.

Qin Z et al.

Frontiers in Genetics, 2020

32625235 (PubMed )
Supplement: Data_Sheet_1.zip › Supplementary_Table_2.XLSX › patient_1
Select a paper to view details
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