Mendelian puzzles

Aravinda Chakravarti; Ashish Kapoor

doi:10.1126/science.1219301

Mendelian puzzles

Aravinda Chakravarti, Ashish Kapoor

School of Medicine

Research output: Contribution to journal › Short survey › peer-review

17 Scopus citations

Abstract

Variations that lie outside of the coding region of a mutated gene can give rise to a range of clinical phenotypes for a Mendelian genetic disorder.

Original language	English (US)
Pages (from-to)	930-931
Number of pages	2
Journal	Science
Volume	335
Issue number	6071
DOIs	https://doi.org/10.1126/science.1219301
State	Published - Feb 24 2012

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title = "Mendelian puzzles",

abstract = "Variations that lie outside of the coding region of a mutated gene can give rise to a range of clinical phenotypes for a Mendelian genetic disorder.",

author = "Aravinda Chakravarti and Ashish Kapoor",

year = "2012",

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AU - Chakravarti, Aravinda

AU - Kapoor, Ashish

PY - 2012/2/24

Y1 - 2012/2/24

N2 - Variations that lie outside of the coding region of a mutated gene can give rise to a range of clinical phenotypes for a Mendelian genetic disorder.

AB - Variations that lie outside of the coding region of a mutated gene can give rise to a range of clinical phenotypes for a Mendelian genetic disorder.

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JO - Science

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Mendelian puzzles

Abstract

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