Unveiling the pathogenic mechanisms of NPR2 missense variants: insights into the genotype-associated severity in acromesomelic dysplasia and short stature.

Front Cell Dev Biol · 2023 · PMC10702138 · PMID 38078000

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highly significantno p-value reported

Unlikely, p.Arg932Cys NPR2 variant located in the guanylyl cyclase domain has displayed a similar expression pattern compared to WT-NPR2 but showed a highly significant reduction in cGMP compared to WT NPR2.

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