... may contain more recent information. — ED. Table A. Autosomal Dominant Tubulointerstitial ... are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...

... may contain more recent information. — ED. Table A. Autosomal Dominant Tubulointerstitial ... are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...

... Arg3277Cys Hypomorphic allele (See Genotype-Phenotype Correlations .) ... of nomenclature. Chapter Notes Author ...

... may contain more recent information. — ED. Table A. Autosomal Dominant ... are compiled from the following standard references: gene from HGNC ; chromosome locus from OMIM ; protein ...

... 15 December 2022 (aa) Revision: added IFT140 -related autosomal dominant polycystic kidney disease to ... References Literature Cited Ackah RL, Yoeli D, Kueht M, ...

... occur at different residues from those responsible for autosomal dominant (AD) disease. As yet, variants ... Protein Change Reference Sequences c.664C>T p.His222Tyr 1 NM_ ...

... autosomal recessive dRTA are loss-of-function variants. Autosomal dominant disease-causing ... References Literature Cited Alonso-Varela M, Gil-Peña H, ...

... early lethality [ Tona et al 2020 ]. Mechanism of disease causation Autosomal recessive disorders ... Reference Sequences DNA Nucleotide Change Predicted Protein Change Comment [ ...

... al 2013 ]. Table 9. Noonan Syndrome: Mechanism of Disease ... pathogenic variants that lead to autosomal dominant LZTR1 -related Noonan syndrome [ Motta et al 2019 ] ...