-
landmark ****ociation for
Molecular Pathology v.
Myriad Genetics lawsuit.
Biallelic and
homozygous inheritance of a BRCA gene
leads to a
severe form of Fanconi...
- was
initially described in 2004. In 2019, the
cause was
identified as
biallelic pentanucleotide expansion in the RFC1 gene.
Specific treatment is lacking...
-
Mismatch repair cancer syndrome (MMRCS) is a
cancer syndrome ****ociated with
biallelic DNA
mismatch repair mutations. It is also
known as
Turcot syndrome (after...
-
treatment of
Leber congenital amaurosis. Leber's
congenital amaurosis, or
biallelic RPE65-mediated
inherited retinal disease, is an
inherited disorder causing...
-
Middle Eastern non-Jewish po****tions
share a
common pool of Y-chromosome
biallelic haplotypes". Proc. Natl. Acad. Sci. U.S.A. 97 (12): 6769–74. Bibcode:2000PNAS...
-
Middle Eastern non-Jewish po****tions
share a
common pool of Y-chromosome
biallelic haplotypes". PNAS. 97 (12): 6769–6774. Bibcode:2000PNAS...97.6769H. doi:10...
- breast-ovarian
cancer syndromes are
inherited in an
autosomal dominant pattern.
Biallelic and
homozygous inheritance of
defective alleles that
confer this syndrome...
- Lu YQ, Wu S, Li X, Fan G, Yu H, Xu J, Wang N,
Xiong ZQ, Chen WJ (2018)
Biallelic Mutations in
MYORG cause autosomal recessive primary familial brain calcification...
-
development and
maintenance of
neural progenitor cells in the neocortex.
Biallelic variants in
NEPRO can
cause a very rare
ribosomopathy known as anauxetic...
-
group of
Andrea Superti-Furga
showed that the
condition was
caused by
biallelic inactivating variants in the gene
coding for the T-box
transcription factor...
