Article

Missense variants in<i>PLA2G6</i>contribute to a spectrum of clinical syndromes and provide pharmacogenomic correlates

2023-04-06

Abstract excerpt

<h4>Background</h4> Risk alleles in a gene for a genetic disorder can often cause a spectrum of syndromes. The number of copies, deleteriousness and position in the sequence could influence phenotype manifestation. <h4>Methods</h4> Whole exome sequencing in 310 individuals from 100 families with severe mental illness revealed 851 instances of variants in the PLA2G6 gene. We assessed the population frequency and de...

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Literature Corpus work: 046c52b4-2f07-5893-a4d7-ae1ae516fd06
DOI: 10.1101/2023.04.06.23288108

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