Amanote Research

Amanote Research

    RegisterSign In

Biallelic Loss of Function Variants in PPP1R21 Cause a Neurodevelopmental Syndrome With Impaired Endocytic Function

Human Mutation - United States
doi 10.1002/humu.23694
Full Text
Open PDF
Abstract

Available in full text

Categories
Genetics
Date

December 6, 2018

Authors
Atteeq U. RehmanMaryam NajafiMarios KambourisLihadh Al GazaliPeriklis MakrythanasisAbolfazl RadReza MaroofianAnna RajabZornitza StarkJill V. HunterZeineb BakeyMari J. TokitaWeimin HeFrancesco VetriniAndrea PetersenFederico A. SantoniHanan HamamyKaman WuFatma Al JasmiMartin HelmstädterSebastian J. ArnoldFan XiaChristopher RichmondPengfei LiuEhsan Ghayoor KarimianiGholamReza Karami MadaniSebastian LunkeHatem El‐ShantiChristine M. EngStylianos E. AntonarakisJozef HertecantMagdalena WalkiewiczYaping YangMiriam Schmidts
Publisher

Wiley

Amanote Research

Note-taking for researchers

Follow Amanote

© 2025 Amaplex Software S.P.R.L. All rights reserved.

Privacy PolicyRefund Policy