Varaico: Literature-Extracted Genetic Variants

Gene:PTRH2
Variant:p.A90fs
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PTRH2

NM_001015509.3:p.A90fs

Associated Papers

The neurological core features of the infantile-onset multisystem neurologic, endocrine, and pancreatic disease: A novel nonsense mutation in an Italian family.

Mammi A et al.

Journal of the Peripheral Nervous System : Jpns, 2024

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

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