Case Report: A Novel Missense Variant in the SIPA1L3 Gene Associated With Cataracts in a Chinese Family

The signal-induced proliferation-associated 1-like 3 (SIPA1L3) gene that encodes a putative Rap GTPase-activating protein (RapGAP) has been associated with congenital cataract and eye development abnormalities. However, our current understanding of the mutation spectrum of SIPA1L3 associated with ey...

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Detalles Bibliográficos
Autores principales: Yang, Duo, Zhou, Haiyan, Lin, Jiwu, Zhao, Shuangxi, Zhou, Hao, Yin, Zhaochu, Ni, Bin, Chen, Yong, Xie, Wanqin
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8481882/
https://www.ncbi.nlm.nih.gov/pubmed/34603379
http://dx.doi.org/10.3389/fgene.2021.715599

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8481882/
https://www.ncbi.nlm.nih.gov/pubmed/34603379
http://dx.doi.org/10.3389/fgene.2021.715599

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