Varaico: Literature-Extracted Genetic Variants

Gene:GHR
Variant:p.M206_M207Splc
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GHR

NM_000163.5:p.M206_M207Splc

Associated Papers

Corrigendum: Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Keegan NP et al.

Frontiers in Genetics, 2022

35754842 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1

Growth Hormone Receptor (Ghr) 6ω Pseudoexon Activation: A Novel Cause Of Severe Growth Hormone Insensitivity (Ghi).

Cottrell E et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Growth Hormone Receptor (GHR) 6Ω Pseudoexon Activation: a Novel Cause of Severe Growth Hormone Insensitivity.

Cottrell E et al.

The Journal of Clinical Endocrinology and Metabolism, 2021

Analysis of Pathogenic Pseudoexons Reveals Novel Mechanisms Driving Cryptic Splicing.

Keegan NP et al.

Frontiers in Genetics, 2021

35140743 (PubMed )
Supplement: DataSheet1.xlsx › Table_S1
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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."