Varaico: Literature-Extracted Genetic Variants

Gene:GNAT2
Variant:p.M243T
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GNAT2

NM_001377295.2:p.M243T

Associated Papers

Clinical Spectrum and Molecular Characteristics of Inherited Ocular Diseases in a Cohort of Pediatric Patients With Infantile Nystagmus Syndrome.

Gong X et al.

Investigative Ophthalmology & Visual Science, 2025

40232708 (PubMed )
Supplement: iovs-66-4-39_s001.pdf

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL1
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