Varaico: Literature-Extracted Genetic Variants

Gene:IQSEC1
Variant:p.P1020L
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IQSEC1

NM_001134382.3:p.P1020L

Associated Papers

Whole exome sequencing of 28 families of Danish descent reveals novel candidate genes and pathways in developmental dysplasia of the hip.

Dembic M et al.

Molecular Genetics and Genomics : Mgg, 2023

36454308 (PubMed )
Supplement: 438_2022_1980_MOESM4_ESM.xlsx › List_of_genes

Population-level deficit of homozygosity unveils CPSF3 as an intellectual disability syndrome gene.

Arnadottir GA et al.

Nature Communications, 2022

35121750 (PubMed )
Supplement: 41467_2022_28330_MOESM1_ESM.pdf
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