Varaico: Literature-Extracted Genetic Variants

Gene:ACVR2A
Variant:p.A173T
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ACVR2A

NM_001278580.2:p.A173T

Associated Papers

Functional Testing of Bone Morphogenetic Protein (BMP) Pathway Variants Identified on Whole-Exome Sequencing in a Patient with Delayed-Onset Fibrodysplasia Ossificans Progressiva (FOP) Using ACVR1R206H -Specific Human Cellular and Zebrafish Models.

Wentworth KL et al.

Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research, 2022

The genomic landscape of pediatric renal cell carcinomas.

Beck P et al.

Iscience, 2022

35445187 (PubMed )
Supplement: mmc3.xlsx › DKFZ_SNVs_and_indels_pipeline
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