Sequencing the CaSR locus in Pakistani stone formers reveals a novel loss-of-function variant atypically associated with nephrolithiasis

Abstract Background Nephrolithiasis (NL) affects 1 in 11 individuals worldwide and causes significant morbidity and cost. Common variants in the calcium sensing receptor gene (CaSR) have been associated with NL. Rare inactivating CaSR variants classically cause hyperparathyroidism, hypercalcemia and...

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Main Authors: Ihsan Ullah (Author), Isabel Ottlewski (Author), Wasim Shehzad (Author), Amjad Riaz (Author), Sadaqat Ijaz (Author), Asad Tufail (Author), Hafiza Ammara (Author), Shrikant Mane (Author), Shirlee Shril (Author), Friedhelm Hildebrandt (Author), Muhammad Yasir Zahoor (Author), Amar J. Majmundar (Author)
Format: Book
Published: BMC, 2021-11-01T00:00:00Z.
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3rd Floor Main Library

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Call Number: A1234.567
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