Varaico: Literature-Extracted Genetic Variants

Gene:GPR50
Variant:p.H505_I506insT
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GPR50

NM_004224.3:p.H505_I506insT

Associated Papers

Exome sequencing identified a novel HIST1H1E heterozygous protein-truncating variant in a 6-month-old male patient with Rahman syndrome: A case report.

Indugula SR et al.

Clinical Case Reports, 2022

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