Varaico: Literature-Extracted Genetic Variants

Gene:PDE6C
Variant:p.V570M
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PDE6C

NM_006204.4:p.V570M

Associated Papers

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl12.xlsx › Blad1

The third family with TAF6-related phenotype: Alazami-Yuan syndrome.

Tuc E et al.

Clinical Genetics, 2020

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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."