Varaico: Literature-Extracted Genetic Variants

Gene:ACAP3
Variant:p.A307T
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ACAP3

NM_030649.3:p.A307T

Associated Papers

Family-based whole-exome sequencing implicates a variant in lysyl oxidase like 4 in atypical femur fractures.

Zhou W et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2024

39485938 (PubMed )
Supplement: table_s1-4_v18_jan-2024_zjae175.xlsx › Table_S2_variant_list

Unraveling the Genetic Architecture of Hepatoblastoma Risk: Birth Defects and Increased Burden of Germline Damaging Variants in Gastrointestinal/Renal Cancer Predisposition and DNA Repair Genes.

Aguiar T et al.

Frontiers in Genetics, 2022

35495172 (PubMed )
Supplement: DataSheet1.xlsx › Supp_table_3
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