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Article

Functional evaluation of autism-associated mutations in NHE9.

Nature communications - 1 Jan 2013

Kondapalli Kalyan C, Hack Anniesha, Schushan Maya, Landau Meytal, Ben-Tal Nir, Rao Rajini

Abstract excerpt

NHE9 (SLC9A9) is an endosomal cation/proton antiporter with orthologues in yeast and bacteria. Rare, missense substitutions in NHE9 are genetically linked with autism but have not been functionally evaluated. Here we use evolutionary conservation analysis to build a model structure of NHE9 based on the crystal structure of bacterial NhaA and use it to screen autism-associated variants in the human population...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 24065030
DOI: 10.1038/ncomms3510
PMCID: PMC3815575

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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