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PC c.428C>T ;(p.P143L)
Variant ID: 11-66638845-G-A
NM_001040716.1(
PC
):c.428C>T;(p.P143L)
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:
Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.
Orphanet Journal Of Rare Diseases
Lin, Yiming Y; Lin, Bangbang B; Chen, Yanru Y; Zheng, Zhenzhu Z; Fu, Qingliu Q; Lin, Weihua W; Zhang, Weifeng W
Publication Date: 2021-12-04
Variant appearance in text: PC: 428C>T; P143L
PubMed Link:
34863234
Variant Present in the following documents:
13023_2021_Article_2126.pdf
View BVdb publication page
Biochemical and genetic characteristics of patients with primary carnitine deficiency identified through newborn screening.
Orphanet Journal Of Rare Diseases
Lin, Yiming Y; Lin, Bangbang B; Chen, Yanru Y; Zheng, Zhenzhu Z; Fu, Qingliu Q; Lin, Weihua W; Zhang, Weifeng W
Publication Date: 2021-12-04
Variant appearance in text: PC: 428C>T; P143L
PubMed Link:
34863234
Variant Present in the following documents:
13023_2021_Article_2126.pdf
View BVdb publication page