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A massively parallel reporter assay of <i>MECP2</i> cis-regulatory elements reveals genetic candidates for male-biased autism

2026-05-09

Abstract excerpt

Autism affects males four times more often than females, yet the basis of this sex bias remains unclear. One hypothesis is that hypomorphic variants in X-linked genes—genes where loss-of-function alleles cause syndromic neurodevelopmental disorders (NDDs) predominantly in females—produce milder, non-syndromic phenotypes in hemizygous males. We tested this by investigating cis-regulatory elements (CREs) of MECP2 ,...

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Literature Corpus work
26c737d1-fa83-5bfd-8380-81bc15984a18
DOI
10.64898/2026.05.08.723809
Open publication

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A massively parallel reporter assay of <i>MECP2</i> cis-regulatory elements reveals genetic candidates for male-biased autismDOI 10.64898/2026.05.08.723809
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