. . . . . . . . . . . . "[In this paper, we report a mutation in XNP, segregating in a family presenting an ATR-X phenotype without alpha-thalassemia, that causes a proline to serine transition in the helicase II domain.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . . "Gene-disease associations manually curated."@en . "DisGeNET evidence - CURATED"@en . "2016-01-25"^^ . "2016-05-13T12:41:53+02:00"^^ . . . . . . . . . . . "v4.0.0.0" . "v4.0.0" .