Associated Papers
Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family.
Yang D et al.
Frontiers in Genetics, 2021
A 16.7 kb deletion in Sipa1l3 is associated with juvenile cataract in mice.
Walker LR et al.
Mammalian Genome : Official Journal of the International Mammalian Genome Society, 2017
Impact of clinical exomes in neurodevelopmental and neurometabolic disorders.
Evers C et al.
Molecular Genetics and Metabolism, 2017
SIPA1L3 identified by linkage analysis and whole-exome sequencing as a novel gene for autosomal recessive congenital cataract.
Evers C et al.
European Journal of Human Genetics : Ejhg, 2015
Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.
Greenlees R et al.
Human Molecular Genetics, 2015
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