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searching for Multisystem developmental disorder 13 found (16 total)

alternate case: multisystem developmental disorder

EIF4H (889 words) [view diff] exact match in snippet view article find links to article

utilization. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative
TRIM50 (136 words) [view diff] exact match in snippet view article find links to article
TRIM73 and TRIM74. TRIM50 is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. "Entrez
WBSCR17 (447 words) [view diff] exact match in snippet view article find links to article
mouse protein. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. GRCh38:
ABHD11 (363 words) [view diff] exact match in snippet view article find links to article
fold domain. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternatively
NSUN5 (473 words) [view diff] exact match in snippet view article find links to article
protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative
CLIP2 (753 words) [view diff] exact match in snippet view article find links to article
This gene is hemizygously deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. Alternative
WBSCR22 (466 words) [view diff] exact match in snippet view article find links to article
methylation. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. GRCh38:
DNAJC30 (543 words) [view diff] exact match in snippet view article find links to article
protein family. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at 7q11.23. The
GTF2IRD1 (962 words) [view diff] exact match in snippet view article find links to article
Retinoblastoma protein. This gene is deleted in Williams syndrome, a multisystem developmental disorder caused by deletion of multiple genes at 7q11.23. Alternative
LAT2 (890 words) [view diff] exact match in snippet view article find links to article
genes at 7q11.23 commonly deleted in Williams syndrome, a multisystem developmental disorder. This gene consists of at least 14 exons, and its alternative
Carbohydrate-responsive element-binding protein (891 words) [view diff] exact match in snippet view article find links to article
lipogenesis. This gene is deleted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11
KCNH1 (1,586 words) [view diff] exact match in snippet view article find links to article
in the voltage-gated potassium channel, resulting in the multisystem developmental disorder. TBS is categorized by intellectual disabilities, epilepsy
GTF2I (1,672 words) [view diff] exact match in snippet view article find links to article
of the GTF2I gene is noted in Williams-Beuren syndrome, a multisystem developmental disorder caused by the deletion of contiguous genes at chromosome 7q11