Associated Papers
HAPLN3 p.T34A contributes to incomplete penetrance of moyamoya disease in Chinese carrying RNF213 p.R4810K.
Xu J et al.
European Journal of Neurology, 2024
39315749 (PubMed )
Supplement: ENE-31-e16473-s001.xlsx › Table_S2
Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.
Dimopoulou A et al.
Molecular Genetics and Metabolism, 2013
Compound heterozygous mutations in PYCR1 further expand the phenotypic spectrum of De Barsy syndrome.
Lin DS et al.
American Journal of Medical Genetics. Part A, 2011
Functional genomics and SNP analysis of human genes encoding proline metabolic enzymes.
Hu CA et al.
Amino Acids, 2008
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