Xp11.2 duplication is a genomic variation marked by the duplication of an X chromosome region on the short arm p at position 11.2, defined by standard...
27 KB (3,270 words) - 19:32, 7 November 2023
omim.org. Retrieved 2019-04-16. "OMIM Entry - # 300705 - CHROMOSOME Xp11.22 DUPLICATION SYNDROME". omim.org. Retrieved 2019-04-16. "Specific Genetic Disorders"...
42 KB (983 words) - 10:34, 21 August 2024
ATP levels in cells with a high energy demand. GSPT2 MAGED1 UBE2A Xp11.2 Duplication "Fragile X Syndrome - X-linked Mental Retardation and Macroorchidism"...
18 KB (1,927 words) - 16:56, 28 July 2024
described but the full-length nature of only one has been determined. Xp11.2 duplication, section KDM5C GRCh38: Ensembl release 89: ENSG00000126012 – Ensembl...
7 KB (855 words) - 00:27, 30 December 2023
hCG1981635, bA435K1.1,” and “4930578C19Rik.” The CXorf36 gene is located at Xp11.3. It can be transcribed into 8 different transcript variants, which in turn...
9 KB (1,100 words) - 22:48, 15 August 2023
a rare genetic disorder caused by mutations in the NDP gene, located on Xp11.4 (GeneID: 4693). It is inherited in an X-linked recessive manner. This means...
30 KB (3,742 words) - 01:00, 9 March 2024
(December 2005). "Validation of mRNA/EST-based gene predictions in human Xp11.4 revealed differences to the organization of the orthologous mouse locus"...
29 KB (2,567 words) - 12:58, 11 August 2024
different gene partners can arise sporadically and are responsible for Xp11.2 translocation renal cell carcinoma. FLCN-deficient BHD associated renal...
48 KB (5,618 words) - 16:28, 4 August 2024
gene fat facets has a human homologue in Xp11.4 which escapes X-inactivation and has related sequences on Yq11.2". Hum. Mol. Genet. 5 (11): 1695–701. doi:10...
15 KB (1,863 words) - 02:43, 16 July 2024
of the histone deacetylase/acuc/apha family. It contains an internal duplication of two catalytic domains that appear to function independently of each...
15 KB (1,738 words) - 07:16, 11 March 2024