Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation-Reference-Cited by-同舟云学术

Autozygosity reveals recessive mutations and novel mechanisms in dominant genes: implications in variant interpretation

Published:2017-10 Issue:10 Volume:19 Page:1144-1150
ISSN:1098-3600
Container-title:Genetics in Medicine
language:en
Short-container-title:Genetics in Medicine

Author:

Monies Dorota^ORCID,Maddirevula Sateesh,Kurdi Wesam^ORCID,Alanazy Mohammed H.^ORCID,Alkhalidi Hisham^ORCID,Al-Owain Mohammed,Sulaiman Raashda A.^ORCID,Faqeih Eissa,Goljan Ewa,Ibrahim Niema,Abdulwahab Firdous,Hashem Mais,Abouelhoda Mohamed,Shaheen Ranad^ORCID,Arold Stefan T.,Alkuraya Fowzan S.

Publisher

Elsevier BV

Subject

Genetics (clinical)

Link

http://www.nature.com/articles/gim201722.pdf

Reference35 articles.

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