Varaico: Literature-Extracted Genetic Variants

Gene:AGGF1
Variant:p.K140E
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AGGF1

NM_018046.5:p.K140E

Associated Papers

GATA4 variant identified by whole-exome sequencing in a Japanese family with atrial septal defect: Implications for male sex development.

Shimizu D et al.

Clinical Case Reports, 2018

30455927 (PubMed )
Supplement: CCR3-6-2229-s001.pdf

Exome sequencing identifies SLC26A4, GJB2, SCARB2 and DUOX2 mutations in 2 siblings with Pendred syndrome in a Malaysian family.

Chow YP et al.

Orphanet Journal of Rare Diseases, 2017

28222800 (PubMed )
Supplement: 13023_2017_575_MOESM2_ESM.xlsx › Table_S1
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