Varaico: Literature-Extracted Genetic Variants

Gene:POLR2C
Variant:p.G69Splc
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POLR2C

NM_032940.3:p.G69Splc

Associated Papers

Exonic splicing code and coordination of divalent metals in proteins.

Bakhtiar D et al.

Nucleic Acids Research, 2024

38055834 (PubMed )
Supplement: gkad1161_supplemental_files.zip › Supplementary_information-FORMATTED-revised.pdf

Molecular genetics of infertility: loss-of-function mutations in humans and corresponding knockout/mutated mice.

Jiao SY et al.

Human Reproduction Update, 2021

POLR2C Mutations Are Associated With Primary Ovarian Insufficiency in Women.

Moriwaki M et al.

Journal of the Endocrine Society, 2017

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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."