Varaico: Literature-Extracted Genetic Variants

Gene:PDE1B
Variant:p.A448V
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PDE1B

NM_000924.4:p.A448V

Associated Papers

Genetics in a Danish Common Variable Immunodeficiency Cohort.

Drabe CH et al.

Journal of Clinical Immunology, 2025

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."