Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering.
about
Three rare diseases in one Sib pair: RAI1, PCK1, GRIN2B mutations associated with Smith–Magenis Syndrome, cytosolic PEPCK deficiency and NMDA receptor glutamate insensitivityExplorations to improve the completeness of exome sequencingImpaired osteoblast and osteoclast function characterize the osteoporosis of Snyder - Robinson syndrome.Recurrent Mutations in the Basic Domain of TWIST2 Cause Ablepharon Macrostomia and Barber-Say SyndromesAn apparent homozygous deletion in maltase-glucoamylase, a lesson in the evolution of SNP arrays.Analysis of DNA sequence variants detected by high-throughput sequencingCompound heterozygosity for loss-of-function GARS variants results in a multisystem developmental syndrome that includes severe growth retardation.MED23-associated intellectual disability in a non-consanguineous family.Phenotypic evolution of UNC80 loss of function.
P2860
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P2860
Recombination mapping using Boolean logic and high-density SNP genotyping for exome sequence filtering.
description
2011 nî lūn-bûn
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2011年の論文
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年学术文章
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2011年學術文章
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name
Recombination mapping using Bo ...... for exome sequence filtering.
@ast
Recombination mapping using Bo ...... for exome sequence filtering.
@en
type
label
Recombination mapping using Bo ...... for exome sequence filtering.
@ast
Recombination mapping using Bo ...... for exome sequence filtering.
@en
prefLabel
Recombination mapping using Bo ...... for exome sequence filtering.
@ast
Recombination mapping using Bo ...... for exome sequence filtering.
@en
P2093
P2860
P1476
Recombination mapping using Bo ...... for exome sequence filtering.
@en
P2093
Chidi Ahaghotu
Cornelius F Boerkoel
David R Adams
Hannah Carlson-Donohoe
MaryPat Jones
Settara Chandrasekharappa
Thomas C Markello
Ursula Harper
William A Gahl
P2860
P304
P356
10.1016/J.YMGME.2011.12.014
P577
2011-12-23T00:00:00Z