Varaico: Literature-Extracted Genetic Variants

Gene:POLR1A
Variant:p.N327Y
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POLR1A

NM_015425.6:p.N327Y

Associated Papers

Autosomal recessive Treacher Collins syndrome due to POLR1C mutations: Report of a new family and review of the literature.

Ghesh L et al.

American Journal of Medical Genetics. Part A, 2019

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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."