Works matching IS 00034800 AND DT 2020 AND VI 84 AND IP 5
Results: 8
Issue Information.
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 5, p. 1, doi. 10.1111/ahg.12333
- Publication type:
- Article
Identification and functional characterization of CYP4V2 genetic variants exhibiting decreased activity of lauric acid metabolism.
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 5, p. 400, doi. 10.1111/ahg.12388
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- Publication type:
- Article
Lack of association between the GNB3 rs5443, HIF1A rs11549465 polymorphisms, physiological and functional characteristics.
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 5, p. 393, doi. 10.1111/ahg.12387
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- Publication type:
- Article
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 5, p. 380, doi. 10.1111/ahg.12386
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- Publication type:
- Article
MEFV c.2230G>T p.(Ala744Ser) rs61732874 previously misclassified as pathogenic variant due to lack of a population specific database.
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 5, p. 370, doi. 10.1111/ahg.12385
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- Publication type:
- Article
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 5, p. 417, doi. 10.1111/ahg.12384
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- Publication type:
- Article
Genetic structure of the ethnic Lao groups from mainland Southeast Asia revealed by forensic microsatellites.
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 5, p. 357, doi. 10.1111/ahg.12379
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- Publication type:
- Article
LD scores are associated with differences in allele frequencies between populations but LD score regression can still distinguish confounding from polygenicity.
- Published in:
- Annals of Human Genetics, 2020, v. 84, n. 5, p. 412, doi. 10.1111/ahg.12370
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- Publication type:
- Article