Bibliome.ai browser hg19
Search
About
Stats
FAQ
PCCB c.1090+3362C>A
Variant ID: 3-136039268-C-A
NM_000532.4(
PCCB
):c.1090+3362C>A
This variant was identified in 1 publication
View GRCh38 version.
Variant-Specific Resource Links:
gnomAD v2.1.1
Mutalizer Name Checker
Google
UCSC Genome Browser
ClinVar
dbSNP
Publications:
A Population-Based Genomic Study of Inherited Metabolic Diseases Detected Through Newborn Screening.
Annals Of Laboratory Medicine
Park, Kyoung Jin KJ; Park, Seungman S; Lee, Eunhee E; Park, Jong Ho JH; Park, June Hee JH; Park, Hyung Doo HD; Lee, Soo Youn SY; Kim, Jong Won JW
Publication Date: 2016-11
Variant appearance in text: rs518972
PubMed Link:
27578510
Variant Present in the following documents:
Main text
alm-36-561.pdf
alm-36-561-s004.pdf
View BVdb publication page