Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.P424L
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SHH

NM_000193.4:p.P424L

Associated Papers

New insights into the phenotypic spectrum of 14q22q23 deletions: a case report and literature review.

Pichiecchio A et al.

Bmc Medical Genomics, 2018

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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."