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Meer Jacob Rahimi on Muck Rack

Meer Jacob Rahimi

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Articles

Biallelic ATP2B1 variants as a likely cause of a novel neurodevelopmental malformation syndrome with primary hypoparathyroidism - European Journal of Human Genetics

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By Patrick Yap, Stefan K. Bohlander, Sandra T. Cooper, Meer Jacob Rahimi
| Nature Verified
Abstract ATP2B1 encodes plasma membrane calcium-transporting-ATPase1 and plays an essential role in maintaining intracellular calcium homeostasis that regulates diverse signaling pathways. Heterozygous de novo missense and truncating ATP2B1 variants are associated with a neurodevelopmental phenotype of variable expressivity.
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