Varaico: Literature-Extracted Genetic Variants

Gene:ACAP3
Variant:p.A780T
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ACAP3

NM_030649.3:p.A780T

Associated Papers

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_MOESM4_ESM.xlsx › Sheet1

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
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