Associated Papers
Predominant Founder Effect among Recurrent Pathogenic Variants for an X-Linked Disorder.
Bender C et al.
Genes, 2022
35456481 (PubMed )
Supplement: genes-13-00675-s001.zip › genes-1649451-supplementary.xlsx › Supplementary_Table_S2
Molecular modeling of retinoschisin with functional analysis of pathogenic mutations from human X-linked retinoschisis.
Sergeev YV et al.
Human Molecular Genetics, 2010
Effects of pathological mutations on the stability of a conserved amino acid triad in retinoschisin.
Fraternali F et al.
Febs Letters, 2003
[X-linked juvenile retinoschisis and XLRS 1 gene abnormality].
Nakazawa M
Nippon Ganka Gakkai Zasshi, 1999
Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium.
Unknown Author
Human Molecular Genetics, 1998
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