Varaico: Literature-Extracted Genetic Variants

Gene:RRP7A
Variant:p.M1T
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RRP7A

NM_015703.5:p.M1T

Associated Papers

RRP7A links primary microcephaly to dysfunction of ribosome biogenesis, resorption of primary cilia, and neurogenesis.

Farooq M et al.

Nature Communications, 2020

33199730 (PubMed )
Supplement: 41467_2020_19658_MOESM1_ESM.pdf
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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."