Associated Papers
A novel missense variant in LAMC1 identified in a POI family by whole exome sequencing.
Xu H et al.
Gynecological Endocrinology : the Official Journal of the International Society of Gynecological Endocrinology, 2023
37839437 (PubMed )
Supplement: supplement_1.docx
Refining the role of de novo protein-truncating variants in neurodevelopmental disorders by using population reference samples.
Kosmicki JA et al.
Nature Genetics, 2017
28191890 (PubMed )
Supplement: NIHMS845776-supplement-5.xlsx › Congenital_Heart_Disease
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