Varaico: Literature-Extracted Genetic Variants

Gene:PAPSS2
Variant:p.F283V
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PAPSS2

NM_001015880.2:p.F283V

Associated Papers

PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases.

Bownass 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."