Varaico: Literature-Extracted Genetic Variants

Gene:PTK2B
Variant:p.P25S
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PTK2B

NM_173176.3:p.P25S

Associated Papers

Bi-allelic loss-of-function variants in BCAS3 cause a syndromic neurodevelopmental disorder.

Hengel H et al.

American Journal of Human Genetics, 2021

34022130 (PubMed )
Supplement: mmc8.pdf
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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."