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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PTRH2

Variant:p.E124delFs

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PTRH2

NM_001015509.3:p.E124delFs

hg38:chr17:59697611 TC>T

Associated Papers

A Novel PTRH2 Gene Mutation Causing Infantile-onset Multisystem Neurologic, Endocrine, and Pancreatic Disease in a Bahraini Patient.

Isa HM et al.

Oman Medical Journal, 2024

38510576 (PubMed )

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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."