Varaico: Literature-Extracted Genetic Variants

Gene:DAOA
Variant:p.K62E
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DAOA

NM_172370.5:p.K62E

Associated Papers

Genetic analysis and prenatal diagnosis of short-rib thoracic dysplasia 3 with or without polydactyly caused by compound heterozygous variants of DYNC2H1 gene in four Chinese families.

Fang Y et al.

Frontiers in Genetics, 2023

37007936 (PubMed )
Supplement: Table2.XLSX › Sheet1

d-Amino Acids and pLG72 in Alzheimer's Disease and Schizophrenia.

Cheng YJ et al.

International Journal of Molecular Sciences, 2021

Clinical Manifestations of Alport Syndrome-Diffuse Leiomyomatosis Patients With Contiguous Gene Deletions in COL4A6 and COL4A5.

Zhou X et al.

Frontiers in Medicine, 2021

34778325 (PubMed )
Supplement: Data_Sheet_2.PDF

Polymorphisms in mitochondrial ribosomal protein S5 (MRPS5) are associated with leprosy risk in Chinese.

Xing Y et al.

Plos Neglected Tropical Diseases, 2020

33362202 (PubMed )
Supplement: pntd.0008883.s010.xlsx › S9-rare_variants_in_8_families

Cronkhite-Canada syndrome complicated with three malignant tumors: a case report and whole exome sequencing analysis.

Liu S et al.

Chinese Medical Journal, 2019

31764169 (PubMed )
Supplement: cm9-132-3001-s001.xlsx › Supplementary_Table_1

D-Amino Acid Oxidase-pLG72 Interaction and D-Serine Modulation.

Pollegioni L et al.

Frontiers in Molecular Biosciences, 2018

Elucidating the role of the pLG72 R30K substitution in schizophrenia susceptibility.

Sacchi S et al.

Febs Letters, 2017

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