Varaico: Literature-Extracted Genetic Variants

Gene:PTRH1
Variant:p.Q85P
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PTRH1

NM_001002913.3:p.Q85P

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

Infantile-Onset Multisystem Neurologic, Endocrine, and Pancreatic Disease: Case and Review.

Le C et al.

The Canadian Journal of Neurological Sciences. Le Journal Canadien Des Sciences Neurologiques, 2019

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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."