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Biallelic loss‐of‐function variants in RBL2 in siblings with a neurodevelopmental disorder

(2020) Theresa Brunet et al.   Annals of Clinical and Translational Neurology

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases

(2020) Jing Tan et al.   EBioMedicine

VPS51 biallelic variants cause microcephaly with brain malformations: A confirmatory report

(2019) Annette Uwineza et al.   European Journal of Medical Genetics

A C9orf72 ALS/FTD Ortholog Acts in Endolysosomal Degradation and Lysosomal Homeostasis

(2018) Anna Corrionero et al.   CURRENT BIOLOGY

Progressive cerebello-cerebral atrophy and progressive encephalopathy with edema, hypsarrhythmia and optic atrophy may be allelic syndromes

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Co-regulatory networks of human serum proteins link genetics to disease

(2018) Valur Emilsson et al.   SCIENCE

A Neurodevelopmental Disorder Caused by Mutations in the VPS51 Subunit of the GARP and EARP Complexes

(2018) David C Gershlick et al.   HUMAN MOLECULAR GENETICS

The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes

(2017) Dorota Monies et al.   HUMAN GENETICS

The dense-core vesicle maturation protein CCCP-1 binds RAB-2 and membranes through its C-terminal domain

(2017) Jérôme Cattin-Ortolá et al.   TRAFFIC

Disruption of the Golgi protein Otg1 gene causes defective hormone secretion and aberrant glucose homeostasis in mice

(2016) Guangxue Wang et al.   Cell and Bioscience

The EARP Complex and Its Interactor EIPR-1 Are Required for Cargo Sorting to Dense-Core Vesicles

(2016) Irini Topalidou et al.   PLoS Genetics

VPS53mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)

(2014) Miora Feinstein et al.   JOURNAL OF MEDICAL GENETICS

Two Rab2 Interactors Regulate Dense-Core Vesicle Maturation

(2014) Michael Ailion et al.   NEURON

Pericentrosomal targeting of Rab6 secretory vesicles by Bicaudal-D-related protein 1 (BICDR-1) regulates neuritogenesis

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Impaired dense core vesicle maturation inCaenorhabditis elegansmutants lacking Rab2

(2009) Stacey L. Edwards et al.   JOURNAL OF CELL BIOLOGY