Varaico: Literature-Extracted Genetic Variants

Gene:PPP1R21
Variant:p.I724fs
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PPP1R21

NM_001135629.3:p.I724fs

Associated Papers

The role of serine/threonine phosphatases in human development: Evidence from congenital disorders.

Vaneynde P et al.

Frontiers in Cell and Developmental Biology, 2022

PPP1R21-related syndromic intellectual disability: Report of an adult patient and review.

Loddo S et al.

American Journal of Medical Genetics. Part A, 2020

Biallelic loss of function variants in PPP1R21 cause a neurodevelopmental syndrome with impaired endocytic function.

Rehman AU et al.

Human Mutation, 2019

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."