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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.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
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