Varaico: Literature-Extracted Genetic Variants

Gene:PRDM12
Variant:p.D151N
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PRDM12

NM_021619.3:p.D151N

Associated Papers

Exome sequencing identifies novel genes underlying primary congenital glaucoma in the National Birth Defects Prevention Study.

Blue EE et al.

Birth Defects Research, 2024

Congenital insensitivity to pain associated with PRDM12 mutation: Two case reports and a literature review.

Yu H et al.

Frontiers in Genetics, 2023

Hereditary Sensory and Autonomic Neuropathy: A Case Series of Six Children.

Suthar R et al.

Neurology India, 0

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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."