Varaico: Literature-Extracted Genetic Variants

Gene:NHLH1
Variant:p.G34S
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NHLH1

NM_005598.4:p.G34S

Associated Papers

Whole exome sequencing identified mutations causing hearing loss in five consanguineous Pakistani families.

Zhou Y et al.

Bmc Medical Genetics, 2020

32682410 (PubMed )
Supplement: 12881_2020_1087_MOESM1_ESM.xlsx › HL1

Thyroid hormone-mediated negative transcriptional regulation of Necdin expression.

Nygård M et al.

Journal of Molecular Endocrinology, 2006

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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."