Varaico: Literature-Extracted Genetic Variants

Gene:PJA1
Variant:p.S208F
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PJA1

NM_145119.4:p.S208F

Associated Papers

A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders.

Suzuki T et al.

Annals of Clinical and Translational Neurology, 2020

Tumor genetic heterogeneity analysis of chronic sun-damaged melanoma.

Sanna A et al.

Pigment Cell & Melanoma Research, 2020

31811783 (PubMed )
Supplement: PCMR-33-480-s003.xls › Supplementary_Table_3
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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."