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DMRT3_Ser301STOP was evaluated as the candidate causative mutation.
Regardless of this structural difference, we cannot confirm that this digenism is the causative mutation.
For hair length, EG-GWAS directly identifies the causative mutation (Bonferroni-adjusted p-value = 1.87e-06 15.
The Richmond team is not sure that any of the intron changes is the causative mutation of schizophrenia and is analyzing the working parts more closely.
Here, genome-wide linkage analysis and exome sequencing was used to identify the causative mutation in autosomal dominant ACC.
The missense mutation KRT9 c.487C>T, identified in this large Uygur population, is a potential causative mutation.
In addition, whereas autosomal recessive ocular albinism is inherited in a manner similar to oculocutaneous albinism, Nettleship-Falls syndrome is X-linked (the causative mutation is located on the X chromosome).
In 4 of 5 families, the candidate causative mutation segregates with disease in known LVNC genes MYH7 and TPM1.
To address this problem, we undertook a positional cloning strategy to identify the causative mutation in mice with microcytic anaemia (mk).
This resource would be useful for allele replacement in any rice gene and to validate any QTL effect by introducing only the causative mutation in other genetic backgrounds.
The causative mutation changes a single amino acid in the transporter protein SLC45A2.
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