Varaico: Literature-Extracted Genetic Variants

Gene:NR5A1
Variant:p.P130L
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NR5A1

NM_004959.5:p.P130L

Associated Papers

Germline mutations and developmental mosaicism underlying EGFR-mutant lung cancer.

Burr R et al.

Medrxiv : the Preprint Server for Health Sciences, 2023

37808694 (PubMed )
Supplement: media-2.xlsx › Patient_10

Autosomal single-gene disorders involved in human infertility.

Jedidi I et al.

Saudi Journal of Biological Sciences, 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."