Varaico: Literature-Extracted Genetic Variants

Gene:CLCN5
Variant:p.R100W
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CLCN5

NM_001127898.4:p.R100W

Associated Papers

Genetic profiling of synchronous pituitary corticotroph adenomas.

Zhang D et al.

Pituitary, 2025

40544420 (PubMed )
Supplement: 11102_2025_1549_MOESM3_ESM.xlsx › Suppl_Table3

Clinical relevance of systematic phenotyping and exome sequencing in patients with short stature.

Hauer NN et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2018

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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."