New insights into the landscape of ALPL gene variants in patients with hypophosphatasia from the Global HPP Registry

Margaret Robb August 15, 2024

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Categories: Scientific Publications, Scientific Publications (new)

Tags: ALPL Variant, Gene Sequencing, Heterozygous, Variant of Uncertain Significance

The Global ALPL gene variant classification project: Dedicated to deciphering variants

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Margaret Robb January 23, 2024

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Systemic Effects of Hypophosphatasia. Characterization of Two Novel Variants in the Alpl Gene

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Margaret Robb November 22, 2023

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Patient of the Month- Nellie S.

Hi, I am Nellie and this is my HPP story: I absolutely love spending time with my family. My husband and I have two sons,…

wpengine August 4, 2022

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Rare Variants in the Gene ALPL That Cause Hypophosphatasia Are Strongly Associated With Ovarian and Uterine Disorders

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softbones October 28, 2020

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Six ALPL gene variants in five children with hypophosphatasia

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Denise Goodbar June 30, 2021

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