Varaico: Literature-Extracted Genetic Variants

Gene:FRG1
Variant:p.A108T
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FRG1

NM_004477.3:p.A108T

Associated Papers

Novel rare genetic variants of familial and sporadic pulmonary atresia identified by whole-exome sequencing.

Xing J et al.

Open Life Sciences, 2023

37215497 (PubMed )
Supplement: biol-2022-0593-sm.pdf

Whole exome sequencing identified a novel POT1 variant as a candidate pathogenic allele underlying a Li-Fraumeni-like family.

Li Y et al.

Frontiers in Oncology, 2022

36387164 (PubMed )
Supplement: Table_1.xlsx › sheet1

KIAA1109 gene mutation in surviving patients with Alkuraya-Kučinskas syndrome: a review of literature.

Kumar K et al.

Bmc Medical Genetics, 2020

32590954 (PubMed )
Supplement: 12881_2020_1074_MOESM1_ESM.xlsx › Sheet1

MUG-Mel2, a novel highly pigmented and well characterized NRAS mutated human melanoma cell line.

Rinner B et al.

Scientific Reports, 2017

28522871 (PubMed )
Supplement: 41598_2017_2197_MOESM1_ESM.pdf
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