Varaico: Literature-Extracted Genetic Variants

Gene:MMP14
Variant:p.P96S
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MMP14

NM_004995.4:p.P96S

Associated Papers

Case Report: Novel ADAMTSL2 compound heterozygous mutations in geleophysic dysplasia with bilateral glaucoma and keratoconus-like corneal ectasia.

Lee CL et al.

Frontiers in Genetics, 2026

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