Varaico: Literature-Extracted Genetic Variants

Gene:PRDM15
Variant:p.L154Q
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PRDM15

NM_001040424.3:p.L154Q

Associated Papers

Mutations in PRDM15 Are a Novel Cause of Galloway-Mowat Syndrome.

Mann N et al.

Journal of the American Society of Nephrology : Jasn, 2021

PRDM15 loss of function links NOTCH and WNT/PCP signaling to patterning defects in holoprosencephaly.

Mzoughi S et al.

Science Advances, 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."