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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:MAPK1

Variant:p.A5V

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MAPK1

NM_002745.5:p.A5V

hg38:chr22:21867427 G>A

Associated Papers

The IFITM5 mutation in osteogenesis imperfecta type V is associated with an ERK/SOX9-dependent osteoprogenitor differentiation defect.

Marom R et al.

The Journal of Clinical Investigation, 2024

38885336 (PubMed )

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