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PKD1 c.4664C>G ;(p.A1555G)
Variant ID: 16-2160504-G-C
NM_001009944.2(
PKD1
):c.4664C>G;(p.A1555G)
This variant was identified in 3 publications
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
Human iPSC banking: barriers and opportunities.
Journal Of Biomedical Science
Huang, Ching-Ying CY; Liu, Chun-Lin CL; Ting, Chien-Yu CY; Chiu, Yueh-Ting YT; Cheng, Yu-Che YC; Nicholson, Martin W MW; Hsieh, Patrick C H PCH
Publication Date: 2019-10-28
Variant appearance in text: PKD1: A1555G
PubMed Link:
31660969
Variant Present in the following documents:
12929_2019_Article_578.pdf
View BVdb publication page
Genome sequencing and implications for rare disorders.
Orphanet Journal Of Rare Diseases
Posey, Jennifer E JE
Publication Date: 2019-06-24
Variant appearance in text: PKD1: A1555G
PubMed Link:
31234920
Variant Present in the following documents:
13023_2019_Article_1127.pdf
View BVdb publication page
Clinical and public health implications of emerging genetic technologies.
Seminars In Nephrology
Laberge, Anne-Marie AM; Burke, Wylie W
Publication Date: 2010-03
Variant appearance in text: PKD1: A1555G
PubMed Link:
20347647
Variant Present in the following documents:
Main text
View BVdb publication page