Varaico: Literature-Extracted Genetic Variants

Gene:ACTR5
Variant:p.R518Q
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ACTR5

NM_024855.4:p.R518Q

Associated Papers

The oligogenic inheritance test GCOD detects risk genes and their interactions in congenital heart defects.

Pittman M et al.

Genome Research, 2026

41386981 (PubMed )
Supplement: Supplemental_Tables.xlsx › S9

Expanding the mutational spectrum of congenital microcephaly in Pakistani families.

Farooq S et al.

Frontiers in Genetics, 2025

41555927 (PubMed )
Supplement: Table1.xlsx › Family_3_ASPM
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