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

Margaret Robb January 23, 2024

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Categories: Scientific Publications, Scientific Publications (new)

Tags: ACMG, alkaline phosphatase, hypophosphatasia, Reclassification, Vitamin B6

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

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Margaret Robb August 15, 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- Judith H.

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Denise Goodbar October 31, 2023

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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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