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De novo missense mutation in GRIA2 in a patient with global developmental delay, autism spectrum disorder, and epileptic encephalopathy.
Not available
S-EPMC9235849
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biostudies-literature
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Biallelic
SEPSECS
variants in two siblings with pontocerebellar hypoplasia type 2D underscore the relevance of splice-disrupting synonymous variants in disease.
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S-EPMC8958912
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biostudies-literature
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