Varaico: Literature-Extracted Genetic Variants

Gene:NOTCH2
Variant:p.A2316V
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NOTCH2

NM_024408.4:p.A2316V

Associated Papers

NOTCH2 variant D1853H is mutated in two non-syndromic premature ovarian insufficiency patients from a Chinese pedigree.

Li L et al.

Journal of Ovarian Research, 2020

Genetics of Primary Ovarian Insufficiency in the Next-Generation Sequencing Era.

França MM et al.

Journal of the Endocrine Society, 2020

Functional evidence implicating NOTCH2 missense mutations in primary ovarian insufficiency etiology.

Patiño LC et al.

Human Mutation, 2019

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