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The Role of ATP9A (c.1091G>C; p.(Arg364Thr)) Variant in Cognitive Impairment: Diagnostic Insight from Whole Exome Sequencing

2025-12-08

Abstract excerpt

<title>Abstract</title> <p> Background: The <italic>ATP9A</italic> gene encodes a P4-type ATPase involved in phospholipid translocation, essential for vesicular trafficking and neuronal development. Pathogenic <italic>ATP9A</italic> variants cause autosomal recessive neurodevelopmental disorders characterized by intellectual disability and microcephaly, yet the impact of missense variants remains poorly unde...

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Literature Corpus work
5bd58695-96e2-5448-8c4f-38a5d9a2af6a
DOI
10.21203/rs.3.rs-8263851/v1
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The Role of ATP9A (c.1091G&gt;C; p.(Arg364Thr)) Variant in Cognitive Impairment: Diagnostic Insight from Whole Exome SequencingDOI 10.21203/rs.3.rs-8263851/v1
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