Varaico: Literature-Extracted Genetic Variants

Gene:PTPRB
Variant:p.G477R
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PTPRB

NM_001109754.4:p.G477R

Associated Papers

De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea.

Xia F et al.

American Journal of Human Genetics, 2014

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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."