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Mutation
- ... males have been reported in the scientific literature. Mutations in the MECP2 gene cause MECP2-related severe ... versions of certain proteins in nerve cells. Although mutations in the MECP2 gene disrupt the normal function ...
- What is a gene variant and how do variants occur? How can gene variants affect health and development? Do all gene variants affect health and development? ...
- ... have been identified. Renpenning syndrome is caused by mutations in the PQBP1 gene. This gene provides instructions ... important for normal brain development.Most of the mutations in the PQBP1 gene that cause Renpenning syndrome ...
- ... when researchers are studying the effects of CACNA1C mutations in various tissues. MedlinePlus Genetics provides information about ... About This Health Condition Variants (also known as mutations) in the CACNA1C gene have been found to ...
- ... called genomic imprinting. More than 20 MKRN3 gene mutations have been found to cause central precocious puberty. ... in both girls and boys.The MKRN3 gene mutations involved in central precocious puberty are thought to ...
- ... affect less than 1 in 1 million people. Mutations in the C19orf12 gene cause MPAN. The protein ... a process known as lipid homeostasis.The gene mutations that cause this condition lead to an altered ...
- ... to self-destruct (undergo apoptosis). Variants (also called mutations) in the IKBKG gene have been found to ... accounts for the vast majority of incontinentia pigmenti mutations. Hum Mol Genet. 2001 Sep 15;10(19): ...
- ... change used to be known as a gene mutation, but because changes in DNA do not always ...
- ... within the gene. The inherited variant (also called mutation) that causes Huntington's disease is known as ...
- ... right times. Sometimes, gene variants (also known as mutations) prevent one or more proteins from working properly. ...
