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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PCSK1N

Variant:p.V19M

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PCSK1N

NM_013271.5:p.V19M

hg38:chrX:48835478 C>T

Associated Papers

Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I.

Abdel-Salam GM et al.

American Journal of Medical Genetics. Part A, 2013

23794361 (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."