https://iris.unife.it/handle/11392/463082
A RECURRENT MISSENSE MUTATION (Arg - Gln) AND A PARTIAL DELETION IN FACTOR VIII GENE CAUSING...
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https://research.birmingham.ac.uk/en/publications/a-missense-mutation-in-the-human-cytochrome-b5-gene-causes-46xy-d/
A Missense Mutation in the Human Cytochrome b5 Gene causes 46,XY Disorder of Sex Development due to...
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https://scholarlyexchange.childrensmercy.org/papers/3253/
"A pore-localizing CACNA1C-E1115K missense mutation, identified in a pa" by Dan Ye, David J. Tester...
Background: Gain-of-function variants in the CACNA1C-encoded L-type calcium channel (LTCC, Cav1.2) cause type 8 long QT syndrome (LQT8). The pore region...
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https://art.torvergata.it/handle/2108/46429
Complete loss of P/Q calcium channel activity caused by a CACNA1A missense mutation carried by...
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https://knova.um.edu.my/research_publications_2021_2025/1237/
"A Novel De Novo NFKBIA missense mutation associated to ectodermal dysp" by Chai Teng Chear, Bader...
Inborn errors of immunity (IEIs) are comprised of heterogeneous groups of genetic disorders affecting immune function. In this report, a 17-month-old Malay...
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https://openaccess.bezmialem.edu.tr/entities/publication/a93cc1f3-82e1-4465-819d-32e99ad0295d
Neonatal diabetes in an infant of a diabetic mother: same novel INS missense mutation in the mother...
Neonatal diabetes is defined as an uncontrolled hyperglycemic state occurring within the first 6 months of life. It is a rare disease with an incidence of 1 to...
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https://pure.fujita-hu.ac.jp/en/publications/a-novel-missense-mutation-of-slc7a9-frequent-in-japanese-cystinur/
A novel missense mutation of SLC7A9 frequent in Japanese cystinuria cases affecting the C-terminus...
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https://www.pafmj.org/PAFMJ/article/view/3029/2267
View of A MISSENSE MUTATION OF MSX1 GENE IN PAKISTANI FAMILIES WITH HYPODONTIA
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