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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTPRM

Variant:p.E360D

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PTPRM

NM_001105244.2:p.E360D

hg38:chr18:7955362 G>C

Associated Papers

A recurrent PJA1 variant in trigonocephaly and neurodevelopmental disorders.

Suzuki T et al.

Annals of Clinical and Translational Neurology, 2020

32530565 (PubMed )

Supplement: ACN3-7-1117-s002.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."