Varaico: Literature-Extracted Genetic Variants

Gene:GH1
Variant:p.G4Splc
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GH1

NM_000515.5:p.G4Splc

Associated Papers

Severe Growth Hormone Deficiency in an Indian Boy Caused by a Novel 6 kb Homozygous Deletion Spanning the GH1 Gene

Haris B et al.

Journal of Clinical Research in Pediatric Endocrinology, 2024

Isolated growth hormone deficiency type IA due to a novel GH1 variant: a case report.

Yang X et al.

Bmc Medical Genomics, 2021

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