Varaico: Literature-Extracted Genetic Variants

Gene:CPS1
Variant:p.L352F
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CPS1

NM_001875.5:p.L352F

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

36153796 (PubMed )
Supplement: JBMR-37-2058-s002.pdf
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