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PHACTR1-related DEE

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PHACTR1-related DEE1

Articles mentioning PHACTR1-related DEE

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Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies

jmedgenet · abstract · 2026-04-16 · 1 matching annotations

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Fragile X syndrome PHACTR1-related DEE

…nal validation methods, resulting in the molecular diagnoses of Fragile X syndrome and PHACTR1-related DEE, respectively.Conclusion OGM contribute…

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PHACTR1-related DEE

Articles mentioning PHACTR1-related DEE

Optical genome mapping identifies previously undetected causal variants in early-onset developmental epileptic encephalopathies