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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PRIM1

Variant:p.C301R

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PRIM1

NM_000946.3:p.C301R

hg38:chr12:56741516 A>G

Associated Papers

PRIM1 deficiency causes a distinctive primordial dwarfism syndrome.

Parry DA et al.

Genes & Development, 2020

33060134 (PubMed )

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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."