PC c.386A>G ;(p.Q129R)

Variant ID: 11-66638887-T-C

NM_001040716.1(PC):c.386A>G;(p.Q129R)

This variant was identified in 2 publications

View GRCh38 version.




Publications:


A GHRHR founder mutation causes isolated growth hormone deficiency type IV in a consanguineous Pakistani family.

Frontiers In Endocrinology
Ahmad, Safeer S; Ali, Muhammad Zeeshan MZ; Abbasi, Sumra Wajid SW; Abbas, Safdar S; Ahmed, Iftikhar I; Abbas, Shakil S; Nawaz, Shoaib S; Ziab, Mubarak M; Ahmed, Ikhlak I; Fakhro, Khalid A KA; Khan, Muzammil Ahmad MA; Akil, Ammira Al-Shabeeb AA
Publication Date: 2023

Variant appearance in text: PC: 386A>G
PubMed Link: 36960394
Variant Present in the following documents:
  • fendo-14-1066182.pdf
View BVdb publication page



Binding of Nanoparticles Harboring Recombinant Large Surface Protein of Hepatitis B Virus to Scavenger Receptor Class B Type 1.

Viruses
Hinuma, Shuji S; Fujita, Kazuyo K; Kuroda, Shun'ichi S
Publication Date: 2021-07-10

Variant appearance in text: PC: Q129R
PubMed Link: 34372540
Variant Present in the following documents:
  • Main text
View BVdb publication page