Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.L15F
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NOTCH2

NM_024408.4:p.L15F

Associated Papers

A review of the genetics and epigenetics of central precocious puberty.

Moise-Silverman J et al.

Frontiers in Endocrinology, 2022

Identification of rare missense mutations in NOTCH2 and HERC2 associated with familial central precocious puberty via whole-exome sequencing.

Lee HS et al.

Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2020

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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."