Varaico: Literature-Extracted Genetic Variants

Gene:NR2C1
Variant:p.F44L
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NR2C1

NM_003297.4:p.F44L

Associated Papers

Homozygous missense variant in BMPR1A resulting in BMPR signaling disruption and syndromic features.

Russell BE et al.

Molecular Genetics & Genomic Medicine, 2019

31493347 (PubMed )
Supplement: MGG3-7-e969-s001.pdf
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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."