Varaico: Literature-Extracted Genetic Variants

Gene:PRKD1
Variant:p.Q593Q
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PRKD1

NM_002742.3:p.Q593Q

Associated Papers

Generation of human induced pluripotent stem cell lines carrying a heterozygous and homozygous PRKD1 c.1774G > A genetic variant causing syndromic congenital defects.

Witthoff F et al.

Stem Cell Research, 2026

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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."