Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...

Gene dysregulation is a hallmark of disease, driving pathogenic phenotypes and poor patient outcomes. RNA binding proteins are often important human gene effectors, controlling RNA synthesis, ...

Papaya (Carica papaya L.) is a globally important tropical fruit valued for its nutrition and medicinal properties, yet its genetic diversity has ...

Figure 4. Structural effects of a single frameshift homozygous nucleotide deletion in the SPAG9/JIP4 gene. Representation of the three-dimensional model in tapes. (A) Region of the SPAG9wt protein ...