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Abnormal affect
- ... Researchers speculate that a shortage of functioning PRRT2 affects the activity of ion channels and the SNARE complex, leading to abnormal signaling between neurons. It is thought that the ...
- ... to control calcification, which likely accounts for the abnormal calcium deposits that ... control. More About This Health Condition ...
- ... often learn to walk later than their peers. Abnormal side-to-side curvature of ... affect the titin protein and cause congenital titinopathy. Researchers ...
- ... s role in getting rid of excess and abnormal mRNA is important for cell growth. Variants (also called mutations) in the SKIC2 gene have been found to cause trichohepatoenteric syndrome, a rare condition that affects many parts of the body. Its major signs ...
- ... protein sequence, resulting in an abnormal protein. This abnormal protein appears to ... a disorder that affects the development of bones throughout the body. These ...
- ... photopigments made from these hybrid genes usually have abnormal visual properties that impair red-green color vision.A rarer form of color vision deficiency, blue cone monochromacy, severely reduces sharpness of vision (visual acuity) and affects the ability to perceive most colors. This condition ...
- ... molecules are stored within cells. A buildup of abnormal glycogen damages organs and tissues throughout the body, particularly the liver and muscles, leading to the signs and symptoms of GSDIII.Variants in the AGL gene can affect different isoforms of the enzyme, depending on where ...
- ... been exposed, other proteins snip out (excise) the abnormal section and replace the damaged area with the correct DNA. Many variants (also called mutations) in the ERCC2 gene have been found to cause trichothiodystrophy. This condition affects many parts of the body. The hallmark of ...
- ... s role in getting rid of excess and abnormal mRNA is important for cell growth. At least 25 variants (also called mutations) in the SKIC3 gene have been found to cause trichohepatoenteric syndrome, a rare condition that affects many parts of the body. Its major signs ...
- ... been exposed, other proteins snip out (excise) the abnormal section and replace the damaged area with the correct DNA. A few variants (also called mutations) in the GTF2H5 gene have been found to cause trichothiodystrophy. This condition affects many parts of the body. The hallmark of ...
