TSC2 c.230_231delinsAC ;(p.A77D)

Variant ID: 16-2103347-CA-AC

NM_000548.3(TSC2):c.230_231delinsAC;(p.A77D)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


Assessment of tuberous sclerosis-associated neuropsychiatric disorders using the MINI-KID tool: a pediatric case-control study.

Orphanet Journal Of Rare Diseases
Ding, Yifeng Y; Wang, Ji J; Zhou, Hao H; Li, Taoli T; Zhou, Shuizhen S; Wang, Yi Y
Publication Date: 2021-04-17

Variant appearance in text: TSC2: A77D
PubMed Link: 33865427
Variant Present in the following documents:
  • Main text
View BVdb publication page



Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Plos One
Holehouse, Alex S AS; Naegle, Kristen M KM
Publication Date: 2015

Variant appearance in text: TSC2: A77D
PubMed Link: 26659599
Variant Present in the following documents:
  • pone.0144692.s002.xlsx, sheet 1
View BVdb publication page