Varaico: Literature-Extracted Genetic Variants

Gene:NOG
Variant:p.S185C
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NOG

NM_005450.6:p.S185C

Associated Papers

[Using PGT to give birth to hereditary conductive deafness SYNS1 family a healthy offspring: a case report].

Fu Y et al.

Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi = Chinese Journal of Otorhinolaryngology Head and Neck Surgery, 2024

Clinical observation and genetic analysis of a SYNS1 family caused by novel NOG gene mutation.

Zhang Z et al.

Molecular Genetics & Genomic Medicine, 2022

Multiple synostoses syndrome: Clinical report and retrospective analysis.

Pan Z et al.

American Journal of Medical Genetics. Part A, 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."