Varaico: Literature-Extracted Genetic Variants

Gene:SPIDR
Variant:p.S394*
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SPIDR

NM_001080394.4:p.S394*

Associated Papers

MGA loss-of-function variants cause premature ovarian insufficiency.

Tang S et al.

The Journal of Clinical Investigation, 2024

39545409 (PubMed )
Supplement: jci-134-183758-s054.pdf

Landscape of pathogenic mutations in premature ovarian insufficiency.

Ke H et al.

Nature Medicine, 2023

36732629 (PubMed )
Supplement: 41591_2022_2194_MOESM2_ESM.xlsx › Supplementary_Table_9
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