Mutation nomenclature: nicknames, systematic names, and unique identifiers.
about
Challenges in the association of human single nucleotide polymorphism mentions with unique database identifiersA high proportion of novel mutations in BRCA1 with strong founder effects among Dutch and Belgian hereditary breast and ovarian cancer familiesPGK deficiencyPAH Mutation Analysis Consortium Database: 1997. Prototype for relational locus-specific mutation databases.Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease)The improvement of the best practice guidelines for preimplantation genetic diagnosis of cystic fibrosis: toward an international consensus.The PAH mutation analysis consortium database: update 1996.Rh phenotype prediction by DNA typing and its application to practice.Human phenylalanine hydroxylase mutations and hyperphenylalaninemia phenotypes: a metanalysis of genotype-phenotype correlations.
P2860
Q21284327-EA0396A0-55B4-4B08-B4B2-DD002413FBF4Q24680760-250AA352-0263-4B9F-A0E8-D0B8DC2E483CQ28283311-81E49B81-4731-4D20-A039-7B6A66F60144Q34649482-871517DD-05F4-486B-92B3-110696746E3DQ35260756-E764AC75-4573-4019-B55B-A54052AE8928Q37058059-28908ED3-285E-414D-B12C-1815A2F6A096Q39718722-1500E0D9-B4C2-4C0E-8FFB-39E35C8CA954Q40829592-E0D8A1C4-D298-4DCA-BEA9-FFF54A382B2DQ41889461-64F29BB0-99D0-490C-A365-01C67AD9CDE1
P2860
Mutation nomenclature: nicknames, systematic names, and unique identifiers.
description
1996 nî lūn-bûn
@nan
1996年の論文
@ja
1996年論文
@yue
1996年論文
@zh-hant
1996年論文
@zh-hk
1996年論文
@zh-mo
1996年論文
@zh-tw
1996年论文
@wuu
1996年论文
@zh
1996年论文
@zh-cn
name
Mutation nomenclature: nicknames, systematic names, and unique identifiers.
@en
type
label
Mutation nomenclature: nicknames, systematic names, and unique identifiers.
@en
prefLabel
Mutation nomenclature: nicknames, systematic names, and unique identifiers.
@en
P2093
P1433
P1476
Mutation nomenclature: nicknames, systematic names, and unique identifiers.
@en
P2093
Hutchinson F
McKusick VA
Motulsky AG
P304
P356
10.1002/(SICI)1098-1004(1996)8:3<203::AID-HUMU1>3.3.CO;2-C
P577
1996-01-01T00:00:00Z