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Publikováno v:
Case Reports in Genetics.
The X-linked alpha-thalassemia mental retardation (ATR-X) syndrome is a rare genetic condition caused by mutations in the X‐encoded gene ATRX. Here we describe two unrelated patients of Sri Lankan origin with novel missense variants in the ATRX gen
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=hindawi_publ::870ee2cb2ffd1f55578cf7fd34126bc1
