| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Alan Taylor, Pawan S Kashyape, Ruchi Jain, Maha El Naofal, Ahmad Abou Tayou. Heterozygous gain of function variants in a critical region of RNF13 cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive. American journal of medical genetics. Part A. 2023-09-05. PMID:37668308. |
missense variants in the rnf13 gene have been previously known to cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive through a gain-of-function disease mechanism. |
2023-09-05 |
2023-09-07 |
Not clear |
| Alan Taylor, Pawan S Kashyape, Ruchi Jain, Maha El Naofal, Ahmad Abou Tayou. Heterozygous gain of function variants in a critical region of RNF13 cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive. American journal of medical genetics. Part A. 2023-09-05. PMID:37668308. |
heterozygous gain of function variants in a critical region of rnf13 cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive. |
2023-09-05 |
2023-09-07 |
Not clear |
| Alan Taylor, Pawan S Kashyape, Ruchi Jain, Maha El Naofal, Ahmad Abou Tayou. Heterozygous gain of function variants in a critical region of RNF13 cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive. American journal of medical genetics. Part A. 2023-09-05. PMID:37668308. |
in summary, our case report, literature review, and analysis of disease and population databases strongly support the hypothesis that heterozygous gain-of-function variants in a critical region of rnf13 cause congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive. |
2023-09-05 |
2023-09-07 |
Not clear |
| Simon Edvardson, Claudia M Nicolae, Grace J Noh, Jennifer E Burton, Giuseppe Punzi, Avraham Shaag, Jessica Bischetsrieder, Anna De Grassi, Ciro Leonardo Pierri, Orly Elpeleg, George-Lucian Moldova. Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive. American journal of human genetics. vol 104. issue 1. 2019-11-04. PMID:30595371. |
three unrelated affected individuals with congenital microcephaly, infantile epileptic encephalopathy, and profound developmental delay were found to carry heterozygous variants (c.932t>c [p.leu311ser] or c.935t>c [p.leu312pro]) in rnf13, which codes for an ire1α-interacting protein. |
2019-11-04 |
2023-08-13 |
Not clear |
| Simon Edvardson, Claudia M Nicolae, Grace J Noh, Jennifer E Burton, Giuseppe Punzi, Avraham Shaag, Jessica Bischetsrieder, Anna De Grassi, Ciro Leonardo Pierri, Orly Elpeleg, George-Lucian Moldova. Heterozygous RNF13 Gain-of-Function Variants Are Associated with Congenital Microcephaly, Epileptic Encephalopathy, Blindness, and Failure to Thrive. American journal of human genetics. vol 104. issue 1. 2019-11-04. PMID:30595371. |
heterozygous rnf13 gain-of-function variants are associated with congenital microcephaly, epileptic encephalopathy, blindness, and failure to thrive. |
2019-11-04 |
2023-08-13 |
Not clear |