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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GH1

Variant:p.S97_N98Splc

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GH1

NM_000515.5:p.S97_N98Splc

hg38:chr17:63918015 A>C

Associated Papers

The clinical and genetic aspects of six individuals with GH1 variants and isolated growth hormone deficiency type II.

Huang X et al.

Frontiers in Endocrinology, 2024

39435354 (PubMed )

Supplement: Table1.docx

Isolated Growth Hormone Deficiency Type 2 due to a novel GH1 Mutation: A Case Report

Kautsar A et al.

Journal of Clinical Research in Pediatric Endocrinology, 2019

30678423 (PubMed )

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