Varaico: Literature-Extracted Genetic Variants

Gene:PLB1
Variant:p.H327Y
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PLB1

NM_153021.5:p.H327Y

Associated Papers

Missense NAA20 variants impairing the NatB protein N-terminal acetyltransferase cause autosomal recessive developmental delay, intellectual disability, and microcephaly.

Morrison J et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2021

34230638 (PubMed )
Supplement: NIHMS1734681-supplement-Table_S3.xlsx › Table_S3
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