Varaico: Literature-Extracted Genetic Variants

Gene:SHH
Variant:p.E142K
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SHH

NM_000193.4:p.E142K

Associated Papers

Analysis of children with familial short stature: who should be indicated for genetic testing?

Plachy L et al.

Endocrine Connections, 2023

37561071 (PubMed )
Supplement: supplementary_table_3.pdf

High Prevalence of Growth Plate Gene Variants in Children With Familial Short Stature Treated With GH.

Plachy L et al.

The Journal of Clinical Endocrinology and Metabolism, 2019

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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."