Varaico: Literature-Extracted Genetic Variants

Gene:PDE4D
Variant:p.L50V
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PDE4D

NM_001104631.2:p.L50V

Associated Papers

A pathogenic variant of TULP3 causes renal and hepatic fibrocystic disease.

Jafari Khamirani H et al.

Frontiers in Genetics, 2022

36276950 (PubMed )
Supplement: Table1.XLSX › Variant_annotation

Identification of the genetic basis of sporadic polydactyly in China by targeted sequencing.

Zu B et al.

Computational and Structural Biotechnology Journal, 2021

34194672 (PubMed )
Supplement: mmc1.xlsx › S3
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