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UnknownActionable secondary findings in the 73 ACMG-recommended genes in 1559 Thai exomes.
Not available
S-EPMC9022721 | biostudies-literature
UnknownA mutation of the p63 gene in non-syndromic cleft lip.
Not available
S-EPMC2564545 | biostudies-literature
UnknownCarrier frequency estimation of pathogenic variants of autosomal recessive and X-linked recessive mendelian disorders using exome sequencing data in 1,642 Thais.
Not available
S-EPMC10762924 | biostudies-literature
UnknownSevere Hyperammonemic Encephalopathy Requiring Dialysis Aggravated by Prolonged Fasting and Intermittent High Fat Load in a Ramadan Fasting Month in a Patient with CPTII Homozygous Mutation.
Not available
S-EPMC6122042 | biostudies-literature
UnknownHuman asparagine synthetase associates with the mitotic spindle.
Not available
S-EPMC6310878 | biostudies-literature
UnknownMBTPS2, a membrane bound protease, underlying several distinct skin and bone disorders.
Not available
S-EPMC7981912 | biostudies-literature
UnknownA comparison of DNA methylation detection between HiFi sequencing and whole genome bisulfite sequencing in monozygotic twins with Down syndrome.
Not available
S-EPMC12324119 | biostudies-literature
UnknownSplicing analysis of CYP11B1 mutation in a family affected with 11β-hydroxylase deficiency: case report.
Not available
S-EPMC4912772 | biostudies-literature
UnknownNovel mutations in the STK11 gene in Thai patients with Peutz-Jeghers syndrome.
Not available
S-EPMC2776867 | biostudies-literature
UnknownFunctional and pathogenic insights into CNNM4 variants in Jalili syndrome.
Not available
S-EPMC11585565 | biostudies-literature
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