Varaico: Literature-Extracted Genetic Variants

Gene:DRD5
Variant:p.P34Q
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DRD5

NM_000798.5:p.P34Q

Associated Papers

Genetic Screening of a Hungarian Cohort with Focal Dystonia Identified Several Novel Putative Pathogenic Gene Variants.

Salamon A et al.

International Journal of Molecular Sciences, 2023

37445923 (PubMed )
Supplement: ijms-24-10745-s001.zip › ijms-2457225-supplementary.pdf

De novo and recessive forms of congenital heart disease have distinct genetic and phenotypic landscapes.

Watkins WS et al.

Nature Communications, 2019

31624253 (PubMed )
Supplement: 41467_2019_12582_MOESM3_ESM.xlsx › SuppData2.Damaged_genes
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