Two Novel Variants in the ATRX Gene Associated with Variable Phenotypes

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1. 1Mutations in the chromatin-associated protein ATRX2008 · 186 citations
2. 2ATRX encodes a novel member of the SNF2 family of proteins: mutations point to a common mechanism underlying the ATR-X syndrome1996 · 271 citations
3. 3A nonsense mutation of theATRX gene causing mild mental retardation and epilepsy2000 · 76 citations
4. 4Performance of mutation pathogenicity prediction methods on missense variants2011 · 555 citations
5. 5Mutations in PHD‐like domain of the ATRX gene correlate with severe psychomotor impairment and severe urogenital abnormalities in patients with ATRX syndrome2006 · 63 citations