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Paper Details

A comprehensive approach to identification of pathogenic FANCA variants in Fanconi anemia patients and their families.
Hum Mutat
27
2018
DNA repair, DNA repair deficiency, FA, FANCA, FANCA mutations, FANCA sequence variants, FANCA variants, FANCA-null cell line, Fanconi Anemia, Fanconi anemia, MMC, RNA, c, cytoplasm, exons 5 and 16, mutant cDNA, patient, patients, sequence variants
Author NameAffiliation
Danielle C KimbleNational Human Genome Research Institute
Francis P LachThe Rockefeller University
Frank X DonovanNational Human Genome Research Institute
Elizabeth K FlynnNational Human Genome Research Institute
Aparna A KamatNational Human Genome Research Institute
Alice C YoungNational Human Genome Research Institute
James C MullikinNational Human Genome Research Institute
James C MullikinNational Human Genome Research Institute
Arleen D AuerbachThe Rockefeller University
Agata SmogorzewskaThe Rockefeller University
Settara C ChandrasekharappaNational Human Genome Research Institute
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