Title : Prioritizing de novo autism risk variants with calibrated gene- and variant-scoring models.

Pub. Date : 2021 Sep 22

PMID : 34549350






2 Functional Relationships(s)
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1 Finally, we experimentally validate our top-scoring de novo mutation NP_001243143.1:p.Phe309Ser in the sodium/potassium-transporting ATPase ATP1A3 to disrupt protein binding with different partners. Sodium ATPase Na+/K+ transporting subunit alpha 3 Homo sapiens
2 Finally, we experimentally validate our top-scoring de novo mutation NP_001243143.1:p.Phe309Ser in the sodium/potassium-transporting ATPase ATP1A3 to disrupt protein binding with different partners. Potassium ATPase Na+/K+ transporting subunit alpha 3 Homo sapiens