Associated Papers
Heteromeric clusters of ubiquitinated ER-shaping proteins drive ER-phagy.
Foronda H et al.
Nature, 2023
Genotype-phenotype study and expansion of ARL6IP1-related complicated hereditary spastic paraplegia.
Cao Y et al.
Clinical Genetics, 2021
Autozygome and high throughput confirmation of disease genes candidacy.
Maddirevula S et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019
30237576 (PubMed )
Supplement: 41436_2018_138_MOESM2_ESM.xlsx › Table_1
ARL6IP1 mutation causes congenital insensitivity to pain, acromutilation and spastic paraplegia.
Nizon M et al.
Clinical Genetics, 2018
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