The KCTD family includes tetramerization (T1) domain containing proteins with diverse
biological effects. We identified a novel member of the KCTD family, BTBD10. A comprehensive …

Nucleotide variants that disrupt normal splicing might be the cause of a large number of
diseases. Nevertheless, because of the complexity of splicing regulation, it is not always …

Cystic fibrosis (CF) is a common monogenic disease caused by pathogenic variants in the
CFTR gene. The distribution and frequency of CFTR variants vary in different countries and …

Mutations in DES, encoding desmin protein, are associated with different kinds of skeletal
and/or cardiac myopathies. However, it is unknown, whether DES mutations are associated …

The distribution and frequency of the CFTR gene mutations vary considerably between
countries and ethnic groups. Russians are an East Slavic ethnic groups are native to Eastern …

Background Aniridia is a severe autosomal dominant panocular disorder associated with
pathogenic sequence variants of the PAX6 gene or 11p13 chromosomal aberrations …

The issue of point prevalence, cumulative prevalence (CP), and burden of rare hereditary
diseases (RHD), comprising 72–80% of the group of rare diseases, is discussed in many …

Congenital aniridia (AN) is a severe autosomal dominant panocular disorder associated with
pathogenic variants in the PAX6 gene. Previously, we performed a molecular genetic study …

Prevalence and allelic heterogeneity of hereditary diseases (HDs) could vary significantly in
different human populations. Current knowledge of HDs distribution in populations is …

The intricate nature of complex alleles presents challenges in the classification of CFTR
gene mutations, encompassing potential disease-causing, neutral, or treatment-modulating …