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.




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