Associated Papers
Genetic architecture of congenital cataracts: correlation of pathogenic variants with morphology and clinical outcomes.
Guo D et al.
Progress in Retinal and Eye Research, 2025
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
An Epha4/Sipa1l3/Wnt pathway regulates eye development and lens maturation.
Rothe M et al.
Development (cambridge, England), 2017
Hypomorphic variants of cationic amino acid transporter 3 in males with autism spectrum disorders.
Nava C et al.
Amino Acids, 2015
26215737 (PubMed )
Supplement: 726_2015_2057_MOESM2_ESM.xlsx › Sup_Table_3
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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